PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants

Grimes, H.; Ansari, M.; Ashraf, T.; Cueto, Anna; Calder, A.; Day, M.; Fernandez, P.; Foster, A.; Lahiri, N.; Repetto, Gabriela; Scurr, I.; Varghese, V.; Low, Karen

Publication:
PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants

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Date

2023

Type:

Article

Collections

Artículos Medicina y Ciencias de la Salud

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278

Vistas totales

5

Métricas

Gestores bibliográficos

Authors

Grimes, H.

Ansari, M.

Ashraf, T.

Cueto, Anna

Calder, A.

Day, M.

Fernandez, P.

Foster, A.

Lahiri, N.

Repetto, Gabriela

item.page.doiurl

https://doi.org/10.1002/ajmg.a.63313

URI

https://hdl.handle.net/11447/8993

item.page.accessRights

Acceso Abierto

Abstract

PUF60-related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of PUF60, is associated with multiple congenital anomalies affecting a wide range of body...

Citation

Grimes H, Ansari M, Ashraf T, Cueto-González AM, Calder A, Day M, Fernandez Alvarez P, Foster A, Lahiri N, Repetto GM, Scurr I, Varghese V, Low KJ. PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. Am J Med Genet A. 2023 Oct;191(10):2610-2622. doi: 10.1002/ajmg.a.63313

Keywords

PUF60 , Verheij syndrome , Congenital anomalies , Developmental disorder , Intellectual disability , Learning difficulty , Spliceosomopathy

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