De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

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 microc...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913830/
https://www.ncbi.nlm.nih.gov/pubmed/33557041
http://dx.doi.org/10.3390/ijms22041549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913830/
https://www.ncbi.nlm.nih.gov/pubmed/33557041
http://dx.doi.org/10.3390/ijms22041549

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