Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations

Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations

ABSTRACT: Objective: Microcephalic primordial dwarfism (MPD) is a group of clinically and genetically heterogeneous disorders which result in severe prenatal and postnatal growth failure. X-ray repair cross-complementing protein 4 (XRCC4) is a causative gene for an autosomal recessive form of MPD....

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Main Authors: Meghan E. Fredette, MD, Kristin C. Lombardi, MD, Angela L. Duker, MS, LCGC, Catherine O. Buck, MD, Chanika Phornphutkul, MD, Michael B. Bober, MD, PhD, Jose Bernardo Quintos, MD
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520300675

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