A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay

Clinical Dysmorphology · Published 2024-12-09 · DOI 10.1097/mcd.0000000000000513

Authors being retrieved — see the publisher record. https://doi.org/10.1097/mcd.0000000000000513

Abstract

PubPorta does not have an abstract for this article yet.

Read the article at the publisher →

Publication details

Year

2024

Related articles

• Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder · Clinical Dysmorphology · 2026 · Same journal
• A novel case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype · Clinical Dysmorphology · 2025 · Same journal
• Fontaine progeroid syndrome into early adolescence: a case report · Clinical Dysmorphology · 2026 · Same journal
• Dual genetic diagnosis of Mitchell–Riley syndrome and Temple syndrome in a neonate · Clinical Dysmorphology · 2025 · Same journal
• Case of de-novo variant in CDH2 with novel findings: a case report and review of literature · Clinical Dysmorphology · 2025 · Same journal
• A rare RASopathy: Noonan syndrome-like disorder with loose anagen hair caused by a protein phosphatase 1 catalytic subunit beta pathogenic variant · Clinical Dysmorphology · 2026 · Same journal
• Endocrine-predominant type 2 Woodhouse–Sakati syndrome caused by a novel homozygous DCAF17 variant · Clinical Dysmorphology · 2026 · Same journal
• A girl with a de novo PPP2R5D W207R pathogenic variant was also born with an occipital encephalocele · Clinical Dysmorphology · 2025 · Same journal
• Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum · Clinical Dysmorphology · 2025 · Same journal
• Pediatric epilepsy: a dual diagnosis of SCMARCA2-Nicolaides–Baraitser syndrome and CHRNB2-nocturnal-frontal-lobe epilepsy · Clinical Dysmorphology · 2025 · Same journal