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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.

AuthorsAlba M Hernández, Manuela Villamar, Lidia Roselló, Miguel A Moreno-Pelayo, Felipe Moreno, Ignacio Del Castillo
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 143A Issue 7 Pg. 757-62 (Apr 01 2007) ISSN: 1552-4825 [Print] United States
PMID17309062 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • GATA3 Transcription Factor
  • GATA3 protein, human
Topics
  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • Deafness (genetics)
  • Female
  • GATA3 Transcription Factor (genetics)
  • Genitalia, Female (abnormalities)
  • Humans
  • Hypoparathyroidism (genetics)
  • Kidney (abnormalities)
  • Middle Aged
  • Point Mutation
  • Sequence Deletion
  • Spain
  • Syndrome

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