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Article

Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.

American journal of medical genetics. Part A - 1 May 2021

Al Rawi Wafaa N, Ibrahim Fatima H, El Nakeib Omar A S, Al Zidgali Faisal M

Abstract excerpt

Homozygous variants of the thrombospondin type-1 domain-containing 1 (THSD1) gene have recently been associated with nonimmune hydrops fetalis (NIHF; OMIM 236750) in infants, as well as with congenital heart disease, hemangiomas, prematurity, and embryonic lethality. Here, we report the first case of a biallelic variant of THSD1 in an extremely premature infant (25 weeks) who suffered from NIHF (eventually...

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PMID: 33569873
DOI: 10.1002/ajmg.a.62108

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