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

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 - 1990
Externally publishedYes

Keywords

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

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