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Article

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.

American journal of medical genetics. Part A - 1 Jun 2024

Forghani Irman, Lang Steven H, Rodier Matthew J, Bivona Stephanie A, Morales Alejo A, Zuchner Stephan, Bademci Guney, Tekin Mustafa

Abstract excerpt

Phenotypic features of a hereditary connective tissue disorder, including craniofacial characteristics, hyperextensible skin, joint laxity, kyphoscoliosis, arachnodactyly, inguinal hernia, and diverticulosis associated with biallelic pathogenic variants in EFEMP1 have been previously described in four patients. Genome sequencing on a proband and her mother with comparable phenotypic features revealed that both...

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Identifiers

PMID: 38348595
DOI: 10.1002/ajmg.a.63556
PMCID: PMC11060917

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