Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.

Tüysüz, Beyhan; Alp Ünkar, Zeynep; Turan, Hande; Gezdirici, Alper; Uludag Alkaya, Dilek; Kasap, Busra; Yesil, Gözde; Vural, Mehmet; Ercan, Oya

Tüysüz, Beyhan; Alp Ünkar, Zeynep; Turan, Hande; Gezdirici, Alper; Uludag Alkaya, Dilek; Kasap, Busra; Yesil, Gözde; Vural, Mehmet; Ercan, Oya.

Afiliação

Tüysüz B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey. Electronic address: beyhan@istanbul.edu.tr.
Alp Ünkar Z; Department of Neonatology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
Turan H; Department of Pediatric Endocrinology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
Gezdirici A; Department of Medical Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
Uludag Alkaya D; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
Kasap B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
Yesil G; Department of Medical Genetics, Bezmialem University, Istanbul, Turkey.
Vural M; Department of Neonatology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
Ercan O; Department of Pediatric Endocrinology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.

Eur J Med Genet ; 64(12): 104346, 2021 Dec.

Article em En | MEDLINE | ID: mdl-34597859

Assuntos

Proteínas Culina/genética; Proteínas do Citoesqueleto/genética; Nanismo/genética; Face/anatomia & histologia; Variação Genética/genética; Hipotonia Muscular/genética; Coluna Vertebral/anormalidades; Adolescente; Estatura/genética; Proteínas de Transporte/genética; Criança; Pré-Escolar; Estudos de Coortes; Feminino; Humanos; Lactente; Masculino; Adulto Jovem

Palavras-chave

3M syndrome; CUL7; Facial features; Intrauterine growth retardation; OBSL1; Skeletal finding

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Coluna Vertebral / Variação Genética / Proteínas do Citoesqueleto / Proteínas Culina / Nanismo / Face / Hipotonia Muscular Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google