Familial congenital diaphragmatic defect and associated midline anomalies: Further evidence for an X-linked midline gene?

R. Carmi, I. Meizner, M. Katz

Research output: Contribution to journalArticlepeer-review

32 Scopus citations

Abstract

We report on familial occurrence of congenital diaphragmatic defect and associated midline anomalies, namely cleft palate and omphalocele in brothers. This family further supports the existence of an X-linked gene involved in the organization of the embryonal midline. This particular mutant gene might be active in the schisis-morphogenesis phenomena occurring at the midline.

Original languageEnglish
Pages (from-to)313-315
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume36
Issue number3
DOIs
StatePublished - 1 Jan 1990
Externally publishedYes

Keywords

  • cleft palate
  • hydrops fetalis
  • midline developmental schisis-morphogenesis
  • omphalocele

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Familial congenital diaphragmatic defect and associated midline anomalies: Further evidence for an X-linked midline gene?'. Together they form a unique fingerprint.

Cite this