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Article

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

International journal of molecular sciences - 4 Feb 2021

Castilla-Vallmanya Laura, Gürsoy Semra, Giray-Bozkaya Özlem, Prat-Planas Aina, Bullich Gemma, Matalonga Leslie, Centeno-Pla Mónica, Rabionet Raquel, Grinberg Daniel, Balcells Susanna, Urreizti Roser

Abstract excerpt

We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical skeletal defects and syndactyly, while OC15b presented with a more severe microcephaly and semilobal holoprosencephaly. All four progenitors were related and OC15 parents were consanguineous....

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Identifiers

PMID: 33557041
DOI: 10.3390/ijms22041549
PMCID: PMC7913830

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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