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Article

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

Clinical genetics - 1 Jan 2013

Steinbusch C V M, van Roozendaal K E P, Tserpelis D, Smeets E E J, Kranenburg-de Koning T J, de Waal K H, Zweier C, Rauch A, Hennekam R C M, Blok M J, Schrander-Stumpel C T R M

Abstract excerpt

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, unusual face and breathing abnormalities and can be caused by haploinsufficiency of TCF4. The majority of cases are sporadic. Somatic mosaicism was reported infrequently. We report on a proband with typical manifestations of PTHS and his younger brother with a less striking phenotype. In both, a heterozygous...

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Identifiers

PMID: 22335494
DOI: 10.1111/j.1399-0004.2012.01857.x

Genes

TCF4

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