Clinical Variability in a Family with Noonan Syndrome with a Homozygous <i>PTPN11</i> Gene Variant in Two Individuals

Yildirim, Ruken; Unal, Edip; Özalkak, Servan; Akalin, Akçahan; Aykut, Ayça; Yilmaz, Nevzat

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

Yildirim, Ruken; Unal, Edip; Özalkak, Servan; Akalin, Akçahan; Aykut, Ayça; Yilmaz, Nevzat.

Afiliação

Yildirim R; Diyarbakir Children's Hospital, Clinic of Pediatric Endocrinology, Diyarbakir, Turkey
Unal E; Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakir, Turkey
Özalkak S; Diyarbakir Children's Hospital, Clinic of Pediatric Endocrinology, Diyarbakir, Turkey
Akalin A; Diyarbakir Children's Hospital, Clinic of Pediatric Genetics, Diyarbakir, Turkey
Aykut A; Ege University Faculty of Medicine, Department of Genetics, Izmir, Turkey
Yilmaz N; Diyarbakir Children's Hospital, Department of Pediatric Psychiatry, Diyarbakir, Turkey

J Clin Res Pediatr Endocrinol ; 16(1): 76-83, 2024 03 11.

Article em En | MEDLINE | ID: mdl-37847107

Assuntos

Nanismo; Síndrome de Noonan; Humanos; Síndrome de Noonan/diagnóstico; Síndrome de Noonan/genética; Proteína Tirosina Fosfatase não Receptora Tipo 11/genética; Heterozigoto; Fenótipo

Palavras-chave

PTPN11; Noonan syndrome; short stature

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nanismo / Síndrome de Noonan Limite: Humans Idioma: En Revista: J Clin Res Pediatr Endocrinol Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Turquia

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