Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104377
Abstract: Carpenter syndrome 1 (CRPT1) is an acrocephalopolysyndactyly (ACPS) disorder characterized by craniosynostosis, polysyndactyly, obesity, and other malformations. It is caused by mutations in the gene RAB23. We are reporting on two patients from two unrelated… read more here.
Keywords: spectrum; expansion phenotypic; carpenter; carpenter syndrome ... See more keywords
Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14275
Abstract: Pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. Here, we describe four additional unrelated patients with biallelic variants in CWF19L1 (age range:… read more here.
Keywords: related disorder; spectrum; expansion phenotypic; cwf19l1 related ... See more keywords