A new case of HDR syndrome with severe female genital tract malformation: Comment on "Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations" by Hernández et al.

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2329-2330

  Moldovan, Oana ^a   Carvalho, Raquel ^a   Jorge, Zulmira ^a   Medeira, Ana ^a  

^a HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; PARATHYROID HORMONE; PHOSPHATE;

ADULT; CALCIUM BLOOD LEVEL; CASE REPORT; DEVELOPMENTAL GENE; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; FEMALE GENITAL TRACT MALFORMATION; GATA3 GENE; GENE MUTATION; GENETIC ASSOCIATION; GYNECOLOGIC SURGERY; HUMAN; HYPOPARATHYROIDISM; KIDNEY DYSPLASIA; LETTER; MUTATIONAL ANALYSIS; PARATHYROID HORMONE BLOOD LEVEL; PERCEPTION DEAFNESS; PHOSPHATE BLOOD LEVEL; PRIORITY JOURNAL; UTERUS MALFORMATION; VAGINA APLASIA;

DEAFNESS; FEMALE; GATA3 TRANSCRIPTION FACTOR; GENITALIA, FEMALE; HUMANS; HYPOPARATHYROIDISM; KIDNEY;

EID: 81155161813     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34153     Document Type: Letter

References (1)

1. Hernández AM, Villamar M, Roselló L, Moreno-Pelayo MA, Moreno F, Del Castillo I. 2007. Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations. Am J Med Genet 143: 757-762.