Wiedemann-Steiner syndrome in two patients from Portugal

• Tipo: Outra Publicação em Revista Científica Internacional
• Data: 2020

Autores

Grangeia, A (Autor) Outra; Leao, M (Autor) Outra; Carla Pinto Moura (Autor) FMUP

Revista

Título: American Journal of Medical Genetics, Part A

ISSN: 1552-4825

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 10 Citações

Scopus - 10 Citações

Outras Informações

ID Authenticus: P-00R-DFK

DOI: 10.1002/ajmg.a.61407

Abstract (EN): Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It is caused by pathogenic variants in the KMT2A gene. This report describes two unrelated Portuguese patients, age 11 and 17 years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel frameshift variants in the KMT2A gene. This work also highlights the presence of certain clinical features in patients with growth retardation and development delay and should draw attention to the diagnosis of WSS, when hirsutism, particularly hypertrichosis cubiti is present.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4