A Novel Homozygous Variant in GJA1 Causing a Hallermann-Streiff/Oculodentodigital Dysplasia Overlapping Phenotype: A Clinical Report

This paper reports the case of a Moroccan girl with a phenotype within the clinical spectrum of both Hallermann-Streiff (HSS, OMIM 234100) and Oculodentodigital Dysplasia (ODDD, OMIM 164200) syndromes. The patient presented with repeated dental abscesses and severe early childhood caries. She had no...

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Principais autores:	Alexandra Jimenez-Armijo, Khadja Oumensour, Bouchra Bousfiha, Tristan Rey, Virginie Laugel-Haushalter, Agnès Bloch-Zupan, Samira El Arabi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2021-06-01
coleção:	Frontiers in Dental Medicine
Assuntos:	case report rare disease oculodentodigital dysplasia Hallermann Streiff dental anomalies connexin 43
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fdmed.2021.675130/full
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