46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia

被引：8

作者：

Kent, A

Ellwood, D

Simpson, E

Silink, M

机构：

[1] Univ Sydney, Ctr Newborn Care, Canberra Hosp, Dept Neonatol,Canberra Clin Sch, Woden, ACT 2606, Australia

[2] Univ Sydney, Canberra Clin Sch, Dept Paediat Surg, Canberra Hosp, Woden, ACT 2606, Australia

[3] Univ Sydney, Childrens Hosp Westmead, Inst Endocrinol & Diabet, Sydney, NSW 2006, Australia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 131A卷 / 01期

关键词：

D O I：

10.1002/ajmg.a.30298

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：103 / 105

页数：3

共 20 条

[1] ANALYSIS OF THE SRY GENE IN 22 SEX-REVERSED XY FEMALES IDENTIFIES 4 NEW POINT MUTATIONS IN THE CONSERVED DNA-BINDING DOMAIN [J].

AFFARA, NA ;

CHALMERS, IJ ;

FERGUSONSMITH, MA .

HUMAN MOLECULAR GENETICS, 1993, 2 (06) :785-789

[2] DIAPHRAGMATIC-HERNIA IN DENYS-DRASH SYNDROME [J].

DEVRIENDT, K ;

DELOOF, E ;

MOERMAN, P ;

LEGIUS, E ;

VANHOLE, C ;

DEZEGHER, F ;

PROESMANS, W ;

DEVLIEGER, H .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 57 (01) :97-101

[3] A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives [J].

Domenice, S ;

Nishi, MY ;

Billerbeck, AEC ;

Latronico, AC ;

Medeiros, MA ;

Russell, AJ ;

Vass, K ;

Carvalho, FM ;

Frade, EMC ;

Arnhold, IJP ;

Mendonca, BB .

HUMAN GENETICS, 1998, 102 (02) :213-215

[4] MUTATIONAL ANALYSIS OF SRY - NONSENSE AND MISSENSE MUTATIONS IN XY SEX REVERSAL [J].

HAWKINS, JR ;

TAYLOR, A ;

BERTA, P ;

LEVILLIERS, J ;

VANDERAUWERA, B ;

GOODFELLOW, PN .

HUMAN GENETICS, 1992, 88 (04) :471-474

[5] GENETICS OF XY SEX REVERSAL [J].

HAWKINS, JR .

JOURNAL OF ENDOCRINOLOGY, 1995, 147 (02) :183-187

[6]

JAGER RJ, 1992, HUM GENET, V90, P350

[7] PHENOTYPICALLY NORMAL GIRL WITH MALE PSEUDOHERMAPHRODITISM, HYPOPLASTIC LEFT-VENTRICLE, LUNG APLASIA, HORSESHOE KIDNEY, AND DIAPHRAGMATIC-HERNIA [J].

MAASWINKELMOOIJ, PD ;

STOKVISBRANTSMA, WH .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (05) :647-648

[8] Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes [J].

Manouvrier-Hanu, S ;

Besson, R ;

Cousin, L ;

Jeanpierre, C ;

Kacet, N ;

Cartigny, M ;

Devisme, L ;

Storme, L ;

De Martinville, B ;

Lequien, P .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (04) :315-318

[9]

McElreavey K, 1999, AM J MED GENET, V89, P176, DOI 10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO

[10]

2-B

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