Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?

Sarma, Asodu Sandeep; Peter Mathew, Rohan; Dalal, Ashwin; Bhat, Venkatraman; Patil, Siddaramappa Jagdish

Sarma, Asodu Sandeep; Peter Mathew, Rohan; Dalal, Ashwin; Bhat, Venkatraman; Patil, Siddaramappa Jagdish.

Afiliação

Sarma AS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, 500039, India; Graduate Studies, Regional Centre for Biotechnology, Faridabad, Haryana, India.
Peter Mathew R; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, 500039, India; Graduate Studies, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, 500039, India.
Bhat V; Department of Radiology, Mazumdar Shaw Medical Centre, Narayana Hrudayalaya Hospitals, Bangalore, India.
Patil SJ; Division of Medical Genetics, Mazumdar Shaw Medical Centre, Narayana Hrudayalaya Hospitals, Bangalore, India. Electronic address: drsjpatil@gmail.com.

Eur J Med Genet ; 66(7): 104772, 2023 Jul.

Article em En | MEDLINE | ID: mdl-37100236

Assuntos

Craniossinostoses; Haploinsuficiência; Feminino; Humanos; Gravidez; Craniossinostoses/genética; Craniossinostoses/patologia; Fenótipo; Ácido Retinoico 4 Hidroxilase/genética; Tomografia Computadorizada por Raios X

Palavras-chave

Asian-Indian; Autosomal dominant; CYP26B1; Coronal suture; Craniosynostosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Craniossinostoses / Haploinsuficiência Tipo de estudo: Etiology_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia

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