Two twin sister with cohen syndrome and hirsutism: a case report
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Dosyalar
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
SPRINGERNATURE
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Introduction: Cohen syndrome is a genetic disease characterized by a rare neurodevelopmental delay, microcephaly and hypotonia. While phenotypic findings may differ among patients, it may appear normal in the neonatal period, as facial features are not evident. The first clinical signs include nutritional difficulties, hypotonia, microcephaly, neuromotor developmental retardation and joint hypermobility. Due to neutropenia, upper respiratory infections and oral aphthae could be observed. The disease has an autosomal recessive inheritance pattern and is caused by mutations in the VPS13B gene.
Açıklama
Anahtar Kelimeler
Kaynak
EUROPEAN JOURNAL OF HUMAN GENETICS
WoS Q Değeri
Q2
Scopus Q Değeri
Cilt
28
Sayı
SUPPL 1
