A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

被引：12

作者：

Jamsheer, A. ^{[1
,3
]}

Badura-Stronka, M. ^{[1
,3
]}

Sowinska, A. ^{[1
,3
]}

Debicki, S. ^{[1
,3
]}

Kiryluk, K. ^{[2
]}

Latos-Bielenska, A. ^{[1
,3
]}

机构：

[1] NZOZ Ctr Med Genet, Poznan, Poland

[2] Columbia Univ, Dept Med, New York, NY USA

[3] Univ Med Sci, Dept Med Genet, Poznan, Poland

来源：

CLINICAL GENETICS | 2010年 / 78卷 / 01期

关键词：

VARIABLE EXPRESSION; OSSEOUS DYSPLASIA; PHENOTYPE;

D O I：

10.1111/j.1399-0004.2010.01412.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：94 / 97

页数：4

共 16 条

[1] BEIGHTON P, 1979, CLIN GENET, V16, P169
[2] Frasson Maria, 2004, Ophthalmic Genet, V25, P227, DOI 10.1080/13816810490513424
[3] GILLESPIE FD, 1964, ARCH OPHTHALMOL-CHIC, V71, P187
[4] OCULODENTODIGITAL DYSPLASIA SYNDROME ASSOCIATED WITH ABNORMAL CEREBRAL WHITE MATTER
GUTMANN, DH
ZACKAI, EH
MCDONALDMCGINN, DM
FISCHBECK, KH
KAMHOLZ, J
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 41 (01): : 18 - 20
[5] Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature
Joss, Shelagh K.
Ghazawy, Sam
Tomkins, Susan
Ahmed, Mushtaq
Bradbury, John
Sheridan, Eamonn
[J]. EUROPEAN JOURNAL OF PEDIATRICS, 2008, 167 (03) : 341 - 345
[6] OCULODENTODIGITAL DYSPLASIA - 4 NEW REPORTS AND A LITERATURE-REVIEW
JUDISCH, GF
MARTINCASALS, A
HANSON, JW
OLIN, WH
[J]. ARCHIVES OF OPHTHALMOLOGY, 1979, 97 (05) : 878 - 884
[7] A NONORGANIC AND NONENZYMATIC EXTRACTION METHOD GIVES HIGHER YIELDS OF GENOMIC DNA FROM WHOLE-BLOOD SAMPLES THAN DO 9 OTHER METHODS TESTED
LAHIRI, DK
BYE, S
NURNBERGER, JI
HODES, ME
CRISP, M
[J]. JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS, 1992, 25 (04): : 193 - 205
[8] Neurological manifestations of the oculodentodigital dysplasia syndrome
Loddenkemper, T
Grote, K
Evers, S
Oelerich, M
Stögbauer, F
[J]. JOURNAL OF NEUROLOGY, 2002, 249 (05) : 584 - 595
[9] MEYER-SCHWICKERATH G, 1957, Klin Monbl Augenheilkd Augenarztl Fortbild, V131, P18
[10] Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
Paznekas, WA
Boyadjiev, SA
Shapiro, RE
Daniels, O
Wollnik, B
Keegan, CE
Innis, JW
Dinulos, MB
Christian, C
Hannibal, MC
Jabs, EW
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (02) : 408 - 418

← 1 2 →