A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.

Autor: El Fizazi K; Faculty of Medicine, Pharmacy and Dentistry, Laboratory of Biomedical and Translational Research, Sidi Mohamed Ben Abdellah University, Fez, Morocco.; Unit of Medical Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco., Bouramtane A; Unit of Medical Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco., Abbassi M; Unit of Medical Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco., El Asri YA; Unit of Medical Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco., Askander O; Superior Institute of Biological and Paramedical Sciences, Faculty of Medical Sciences, Mohamed VI Polytechnic University, Benguerir, Morocco., El Fahime M; National Center for Scientific and Technological Research, Rabat, Morocco., Ouldim K; Faculty of Medicine, Pharmacy and Dentistry, Laboratory of Biomedical and Translational Research, Sidi Mohamed Ben Abdellah University, Fez, Morocco.; Unit of Medical Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco., Ridal M; Department of Otorhinolaryngology, Hassan II University Hospital, Fez, Morocco.; Faculty of Medicine, Pharmacy and Dentistry, Laboratory of Anatomy, Microsurgery and Experimental Surgery, Sidi Mohamed Ben Abdellah University, Fez, Morocco., Bouguenouch L; Faculty of Medicine, Pharmacy and Dentistry, Laboratory of Biomedical and Translational Research, Sidi Mohamed Ben Abdellah University, Fez, Morocco.; Unit of Medical Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Nov; Vol. 191 (11), pp. 2673-2678. Date of Electronic Publication: 2023 Aug 18.