A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.

Nabil, Amira; El Shafei, Sahar; El Shakankiri, Nihal M; Habib, Ahmed; Morsy, Heba; Maddirevula, Sateesh; Alkuraya, Fowzan S

Nabil, Amira; El Shafei, Sahar; El Shakankiri, Nihal M; Habib, Ahmed; Morsy, Heba; Maddirevula, Sateesh; Alkuraya, Fowzan S.

Afiliação

Nabil A; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt. Electronic address: amiranabil@alexu.edu.eg.
El Shafei S; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt.
El Shakankiri NM; Department of Ophthalmology, Faculty of Medicine, Alexandria University, Egypt.
Habib A; Maxillofacial Surgery Department, Faculty of Dentistry, Alexandria University, Egypt.
Morsy H; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt.
Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.

Eur J Med Genet ; 63(6): 103917, 2020 Jun.

Article em En | MEDLINE | ID: mdl-32201334

Assuntos

Otopatias/genética; Orelha/anormalidades; Mutação; Fenótipo; Fosfolipase C beta/genética; Adolescente; Adulto; Criança; Orelha/patologia; Otopatias/patologia; Endotelina-1/genética; Feminino; Subunidades alfa Gi-Go de Proteínas de Ligação ao GTP/genética; Humanos; Masculino; Linhagem

Palavras-chave

ARCND; Familial; Mandibular to maxillary transformation; PLCB4; Variability

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Orelha / Otopatias / Fosfolipase C beta / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Holanda

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