Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq-Reference-Cited by-同舟云学术

Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq

Published:2004 Issue:3 Volume:126A Page:303-307
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Thauvin-Robinet Christel,Faivre Laurence,Cusin V�ronica,Khau Van Kien Philippe,Callier Patrick,Parker Keith L.,Fellous Marc,Borgnon Jos�phine,Gounot Emmanuel,Huet Fr�d�ric,Sapin Emmanuel,Mugneret Francine

Publisher

Wiley

Subject

Genetics (clinical)

Reference31 articles.

1. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

2. A report of a child with a deletion (9)(q34.3): a recognisable phenotype?

3. Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency

4. OEIS complex, VATER, and the ongoing difficulties in terminology and delineation

5. Spinal abnormalities in classic bladder exstrophy

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