7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype-Reference-Cited by-同舟云学术

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

Published:2017-11-15 Issue:1 Volume:10 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Yokoyama Emiy,Smith-Pellegrin Dennise Lesley,Sánchez Silvia,Molina Bertha,Rodríguez Alfredo,Juárez Rocío,Lieberman Esther,Avila Silvia,Castrillo José Luis,del Castillo Victoria,Frías Sara^ORCID

Funder

Consejo Nacional de Ciencia y Tecnología (MX)

Fondos Federales 2013, Instituto Nacional de Pediatría

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-017-0345-1.pdf

Reference30 articles.

1. Stern AM, Gall JC Jr, Perry BL, Stimson CW, Weitkamp LR, Poznanski AK. The hand-foot-uterus syndrome: a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract. J Pediatr. 1970;77:109–16.

2. Mortlock DP, Innis JW. Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet. 1997;15:179–80. 10.1038/ng0297-179 .

3. Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, et al. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet. 2000;67:197–202.

4. Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet. 2002;39:852–6.

5. Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M. A novel stable polyalanine [poly(a)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(a)-harbouring transcription factors depends on a critical repeat length? Hum Genet. 2002;110:488–94.

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