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Article

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.

The Journal of pediatrics - 1 Dec 2016

Mohammad Saeed, Wolfe Lynne A, Stöbe Petra, Biskup Saskia, Wainwright Mark S, Melin-Aldana Hector, Malladi Padmini, Muenke Maximilian, Gahl William A, Whitington Peter F

Abstract excerpt

OBJECTIVE: To assess the utility of whole-exome sequencing (WES) in a sibling pair with undetermined liver disease and describe the phenotype associated with mutations discovered therein. STUDY DESIGN: Next-generation WES was performed on 2 siblings (S1 and S2) who were born to nonconsanguineous parents of European extraction. Both siblings developed cirrhosis of indeterminate etiology and required liver...

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PMID: 27640355
DOI: 10.1016/j.jpeds.2016.08.043

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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