Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351CFGFR2 mutation

被引：24

作者：

Gonzales, M ^{[1
]}

Heuertz, S ^{[1
]}

Martinovic, J ^{[1
]}

Delahaye, S ^{[1
]}

Bazin, A ^{[1
]}

Loget, P ^{[1
]}

Pasquier, L ^{[1
]}

Le Merrer, M ^{[1
]}

Bonaventure, J ^{[1
]}

机构：

[1] Tour Lavoisier Hop Necker, INSERM, U393, F-75743 Paris, France

来源：

CLINICAL GENETICS | 2005年 / 68卷 / 02期

关键词：

D O I：

10.1111/j.1399-0004.2005.00477.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：179 / 181

页数：3

共 20 条

[1]

Antley R, 1975, Birth Defects Orig Artic Ser, V11, P397

[2]

Chun K, 1998, AM J MED GENET, V77, P219, DOI 10.1002/(SICI)1096-8628(19980518)77:3<219::AID-AJMG6>3.0.CO

[3]

2-K

[4] PFEIFFER SYNDROME UPDATE, CLINICAL SUBTYPES, AND GUIDELINES FOR DIFFERENTIAL-DIAGNOSIS [J].

COHEN, MM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (03) :300-307

[5]

De Moerlooze L, 2000, DEVELOPMENT, V127, P483

[6] Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome [J].

Flück, CE ;

Tajima, T ;

Pandey, AV ;

Arlt, W ;

Okuhara, K ;

Verge, CF ;

Jabs, EW ;

Mendonça, BB ;

Fujieda, K ;

Miller, WL .

NATURE GENETICS, 2004, 36 (03) :228-230

[7]

Gorlin RJ, 1999, AM J MED GENET, V83, P64, DOI 10.1002/(SICI)1096-8628(19990305)83:1<64::AID-AJMG11>3.0.CO

[8]

2-D

[9]

Gripp KW, 1999, AM J MED GENET, V83, P65, DOI 10.1002/(SICI)1096-8628(19990305)83:1<65::AID-AJMG12>3.3.CO

[10]

2-Z

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