Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Nerakh, Gayatri; Vineeth, Venugopal S; Tallapaka, Karthik; Nair, Lekshmi; Dalal, Ashwin; Aggarwal, Shagun

Nerakh, Gayatri; Vineeth, Venugopal S; Tallapaka, Karthik; Nair, Lekshmi; Dalal, Ashwin; Aggarwal, Shagun.

Afiliação

Nerakh G; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
Vineeth VS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
Tallapaka K; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
Nair L; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

Am J Med Genet A ; 188(7): 2139-2146, 2022 07.

Article em En | MEDLINE | ID: mdl-35298084

Assuntos

Nanismo; Ictiose; Microcefalia; Ciclo Celular; Nanismo/genética; Nanismo/patologia; Fácies; Feminino; Humanos; Microcefalia/genética; Microcefalia/patologia; Mutação; Fenótipo

Palavras-chave

DONSON; MOPD-Seckel phenotype; Meier-Gorlin syndrome (MGORS); exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nanismo / Ictiose / Microcefalia Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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