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New fundus findings in a case of Kabuki syndrome
被引:11
作者
:
Chuah, J. L.
论文数:
0
引用数:
0
h-index:
0
机构:
Stepping Hill Hosp, Stockport Eye Ctr, Stockport SK2 7JE, Lancs, England
Stepping Hill Hosp, Stockport Eye Ctr, Stockport SK2 7JE, Lancs, England
Chuah, J. L.
[
1
]
Chuah, J. K.
论文数:
0
引用数:
0
h-index:
0
机构:
Monash Malaysia Med Sch, Dept Med, Selangor, Malaysia
Stepping Hill Hosp, Stockport Eye Ctr, Stockport SK2 7JE, Lancs, England
Chuah, J. K.
[
2
]
Brown, R.
论文数:
0
引用数:
0
h-index:
0
机构:
Stepping Hill Hosp, Stockport Eye Ctr, Stockport SK2 7JE, Lancs, England
Stepping Hill Hosp, Stockport Eye Ctr, Stockport SK2 7JE, Lancs, England
Brown, R.
[
1
]
机构
:
[1]
Stepping Hill Hosp, Stockport Eye Ctr, Stockport SK2 7JE, Lancs, England
[2]
Monash Malaysia Med Sch, Dept Med, Selangor, Malaysia
来源
:
EYE
|
2009年
/ 23卷
/ 06期
关键词
:
MAKE-UP SYNDROME;
MENTAL-RETARDATION;
OCULAR FINDINGS;
ANOMALIES;
EARS;
D O I
:
10.1038/eye.2008.227
中图分类号
:
R77 [眼科学];
学科分类号
:
100212 ;
摘要
:
引用
收藏
页码:1483 / 1485
页数:5
相关论文
共 9 条
[1]
Anandan M, 2005, Ophthalmic Genet, V26, P181, DOI 10.1080/13816810500374433
[2]
Jaw-Winking ptosis in a patient with Kabuki syndrome
Emmert-Buck, LT
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Emmert-Buck, LT
Preslan, MW
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Preslan, MW
Kathuria, SS
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Kathuria, SS
[J].
JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS,
2004,
41
(06)
: 369
-
372
[3]
New ocular findings in a case of Kabuki syndrome
Evans, SL
论文数:
0
引用数:
0
h-index:
0
机构:
Royal Gwent Hosp, Newport NPT 2VB, Gwent, Wales
Evans, SL
Kumar, N
论文数:
0
引用数:
0
h-index:
0
机构:
Royal Gwent Hosp, Newport NPT 2VB, Gwent, Wales
Kumar, N
Rashid, MH
论文数:
0
引用数:
0
h-index:
0
机构:
Royal Gwent Hosp, Newport NPT 2VB, Gwent, Wales
Rashid, MH
Hughes, DS
论文数:
0
引用数:
0
h-index:
0
机构:
Royal Gwent Hosp, Newport NPT 2VB, Gwent, Wales
Hughes, DS
[J].
EYE,
2004,
18
(03)
: 322
-
324
[4]
KLUJIT I, 2000, OPTHALMIC GENET, V21, P51
[5]
A NEW MALFORMATION SYNDROME OF LONG PALPEBRAL FISSURES, LARGE EARS, DEPRESSED NASAL TIP, AND SKELETAL ANOMALIES ASSOCIATED WITH POSTNATAL DWARFISM AND MENTAL-RETARDATION
KUROKI, Y
论文数:
0
引用数:
0
h-index:
0
KUROKI, Y
SUZUKI, Y
论文数:
0
引用数:
0
h-index:
0
SUZUKI, Y
CHYO, H
论文数:
0
引用数:
0
h-index:
0
CHYO, H
HATA, A
论文数:
0
引用数:
0
h-index:
0
HATA, A
MATSUI, I
论文数:
0
引用数:
0
h-index:
0
MATSUI, I
[J].
JOURNAL OF PEDIATRICS,
1981,
99
(04)
: 570
-
573
[6]
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association
Ming, JE
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Ming, JE
Russell, KL
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Russell, KL
Bason, L
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Bason, L
McDonald-McGinn, DM
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
McDonald-McGinn, DM
Zackai, EH
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Zackai, EH
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2003,
123A
(03)
: 249
-
252
[7]
NIIKAWA N, 1982, CLIN GENET, V21, P315
[8]
KABUKI MAKE-UP SYNDROME - A SYNDROME OF MENTAL-RETARDATION, UNUSUAL FACIES, LARGE AND PROTRUDING EARS, AND POSTNATAL-GROWTH DEFICIENCY
NIIKAWA, N
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
NIIKAWA, N
MATSUURA, N
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
MATSUURA, N
FUKUSHIMA, Y
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
FUKUSHIMA, Y
OHSAWA, T
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
OHSAWA, T
KAJII, T
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
KAJII, T
[J].
JOURNAL OF PEDIATRICS,
1981,
99
(04)
: 565
-
569
[9]
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
Turner, C
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Turner, C
Lachlan, K
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Lachlan, K
Amerasinghe, N
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Amerasinghe, N
Hodgkins, P
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Hodgkins, P
Maloney, V
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Maloney, V
Barber, J
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Barber, J
Temple, IK
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Temple, IK
[J].
EUROPEAN JOURNAL OF HUMAN GENETICS,
2005,
13
(06)
: 716
-
720
←
1
→
共 9 条
[1]
Anandan M, 2005, Ophthalmic Genet, V26, P181, DOI 10.1080/13816810500374433
[2]
Jaw-Winking ptosis in a patient with Kabuki syndrome
Emmert-Buck, LT
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Emmert-Buck, LT
Preslan, MW
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Preslan, MW
Kathuria, SS
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA
Kathuria, SS
[J].
JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS,
2004,
41
(06)
: 369
-
372
[3]
New ocular findings in a case of Kabuki syndrome
Evans, SL
论文数:
0
引用数:
0
h-index:
0
机构:
Royal Gwent Hosp, Newport NPT 2VB, Gwent, Wales
Evans, SL
Kumar, N
论文数:
0
引用数:
0
h-index:
0
机构:
Royal Gwent Hosp, Newport NPT 2VB, Gwent, Wales
Kumar, N
Rashid, MH
论文数:
0
引用数:
0
h-index:
0
机构:
Royal Gwent Hosp, Newport NPT 2VB, Gwent, Wales
Rashid, MH
Hughes, DS
论文数:
0
引用数:
0
h-index:
0
机构:
Royal Gwent Hosp, Newport NPT 2VB, Gwent, Wales
Hughes, DS
[J].
EYE,
2004,
18
(03)
: 322
-
324
[4]
KLUJIT I, 2000, OPTHALMIC GENET, V21, P51
[5]
A NEW MALFORMATION SYNDROME OF LONG PALPEBRAL FISSURES, LARGE EARS, DEPRESSED NASAL TIP, AND SKELETAL ANOMALIES ASSOCIATED WITH POSTNATAL DWARFISM AND MENTAL-RETARDATION
KUROKI, Y
论文数:
0
引用数:
0
h-index:
0
KUROKI, Y
SUZUKI, Y
论文数:
0
引用数:
0
h-index:
0
SUZUKI, Y
CHYO, H
论文数:
0
引用数:
0
h-index:
0
CHYO, H
HATA, A
论文数:
0
引用数:
0
h-index:
0
HATA, A
MATSUI, I
论文数:
0
引用数:
0
h-index:
0
MATSUI, I
[J].
JOURNAL OF PEDIATRICS,
1981,
99
(04)
: 570
-
573
[6]
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association
Ming, JE
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Ming, JE
Russell, KL
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Russell, KL
Bason, L
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Bason, L
McDonald-McGinn, DM
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
McDonald-McGinn, DM
Zackai, EH
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Zackai, EH
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2003,
123A
(03)
: 249
-
252
[7]
NIIKAWA N, 1982, CLIN GENET, V21, P315
[8]
KABUKI MAKE-UP SYNDROME - A SYNDROME OF MENTAL-RETARDATION, UNUSUAL FACIES, LARGE AND PROTRUDING EARS, AND POSTNATAL-GROWTH DEFICIENCY
NIIKAWA, N
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
NIIKAWA, N
MATSUURA, N
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
MATSUURA, N
FUKUSHIMA, Y
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
FUKUSHIMA, Y
OHSAWA, T
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
OHSAWA, T
KAJII, T
论文数:
0
引用数:
0
h-index:
0
机构:
JICHI MED SCH, DEPT RADIOL, MINAMIKAWACHI, TOCHIGI 32904, JAPAN
KAJII, T
[J].
JOURNAL OF PEDIATRICS,
1981,
99
(04)
: 565
-
569
[9]
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
Turner, C
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Turner, C
Lachlan, K
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Lachlan, K
Amerasinghe, N
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Amerasinghe, N
Hodgkins, P
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Hodgkins, P
Maloney, V
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Maloney, V
Barber, J
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Barber, J
Temple, IK
论文数:
0
引用数:
0
h-index:
0
机构:
Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England
Temple, IK
[J].
EUROPEAN JOURNAL OF HUMAN GENETICS,
2005,
13
(06)
: 716
-
720
←
1
→