Article
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Cold Spring Harbor molecular case studies - 1 Oct 2018
Tan Queenie K-G, Cope Heidi, Spillmann Rebecca C, Stong Nicholas, Jiang Yong-Hui, McDonald Marie T, Rothman Jennifer A, Butler Megan W, Frush Donald P, Lachman Ralph S, Lee Brendan, Bacino Carlos A, Bonner Melanie J, McCall Chad M, Pendse Avani A, Walley Nicole, Shashi Vandana, Pena Loren D M
Abstract excerpt
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little is known about the phenotypes associated with pathogenic variants in the EFL1 gene, but the initial indication was that phenotypes may be more severe, when...
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