De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
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 p...
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Full title
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7913830
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7913830
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms22041549
