Familial deletion of theHOXAgene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability-Reference-Cited by-同舟云学术

Familial deletion of theHOXAgene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability

Published:2016-09-20 Issue:1 Volume:173 Page:221-224
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Tas Emir¹,Sebastian Jessica²,Madan-Khetarpal Suneeta²,Sweet Philip³,Yatsenko Alexander N.⁴⁵⁶,Pollock Nijole⁴⁵,Rajkovic Aleksandar⁴⁵⁶⁷,Schneck Francis X.⁸,Yatsenko Svetlana A.⁴⁶⁷,Witchel Selma Feldman¹

Affiliation:

1. Pediatric Endocrinology; Children's Hospital of Pittsburgh of UPMC; Pittsburgh Pennsylvania

2. Medical Genetics; Children's Hospital of Pittsburgh of UPMC; Pittsburgh Pennsylvania

3. Kenneth P. Dietrich School of Arts and Sciences; University of Pittsburgh; Pittsburgh Pennsylvania

4. Department of Obstetrics; Gynecology and Reproductive Sciences; University of Pittsburgh; Pittsburgh Pennsylvania

5. Magee-Womens Research Institute; Pittsburgh Pennsylvania

6. Department of Pathology; University of Pittsburgh School of Medicine; Pittsburgh Pennsylvania

7. Department of Human Genetics; Graduate School of Public Health; University of Pittsburgh; Pittsburgh Pennsylvania

8. Pediatric Urology; Children's Hospital of Pittsburgh of UPMC; Pittsburgh Pennsylvania

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli;Devriendt;Am J Hum Genet,1999

2. Update on a family with hand-foot-genital syndrome: Hypospadias and urinary tract abnormalities in two boys from the fourth generation;Donnenfeld;Am J Med Genet,1992

3. Mapping genomic deletions down to the base: A quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion;Dunø;Hum Genet,2004

4. Severe developmental delay in a patient with 7p21.1-p14.3 microdeletion spanning the TWIST gene and the HOXA gene cluster;Fryssira;Mol Syndromol,2011

5. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome;Goodman;Am J Hum Genet,2000

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