Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.

Remmelzwaal, P Christian; Verhagen, Martijn V; Jongbloed, Jan D H; van den Akker, Peter C; Veenstra-Knol, Hermine E; Hitzert, Marrit M

Remmelzwaal, P Christian; Verhagen, Martijn V; Jongbloed, Jan D H; van den Akker, Peter C; Veenstra-Knol, Hermine E; Hitzert, Marrit M.

Afiliação

Remmelzwaal PC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Verhagen MV; Department of Radiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Jongbloed JDH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van den Akker PC; Department of Genetics, Groningen Expertise Center for Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Hitzert MM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Am J Med Genet A ; 191(9): 2440-2445, 2023 09.

Article em En | MEDLINE | ID: mdl-37294112

Assuntos

Nanismo; Osteocondrodisplasias; Doenças da Imunodeficiência Primária; Humanos; Mutação; Nanismo/diagnóstico; Nanismo/genética; Osteocondrodisplasias/diagnóstico; Osteocondrodisplasias/genética; Fenótipo

Palavras-chave

NEPRO; POP1; RMRP; anauxetic dysplasia; cartilage hair hypoplasia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Doenças da Imunodeficiência Primária Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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