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Article

A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.

Clinical dysmorphology - 1 Jul 2020

Guzoglu Nilufer, Aslan Mustafa K, Gunay Yasemin D, Atasoy Pinar, Ceylaner Serdar, Aliefendioglu Didem

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PMID: 32073407
DOI: 10.1097/MCD.0000000000000317

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A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.PMID 32073407Read ↗

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A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.Semantic proximity Read ↗

Contributions of PHOX2B in the Pathogenesis of Hirschsprung DiseaseSemantic proximity Read ↗

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