Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM

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TÜYSÜZ B., Ercan-Sencicek A. G., ÖZER E., Goc N., Yalcinkaya C., Bilguvar K.

TURKISH ARCHIVES OF PEDIATRICS, cilt.57, sa.5, ss.521-525, 2022 (ESCI)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 57 Sayı: 5
• Basım Tarihi: 2022
• Doi Numarası: 10.5152/turkarchpediatr.2022.22070
• Dergi Adı: TURKISH ARCHIVES OF PEDIATRICS
• Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
• Sayfa Sayıları: ss.521-525
• Anahtar Kelimeler: L1CAM, hydrocephalus, adducted thumbs, corpus callosum agenesis, intellectual disability, L1, DISEASE
• İstanbul Üniversitesi Adresli: Evet

Özet

Objective: The study aimed to show the clinical characteristics and prognosis of the L1 syndrome in patients with L1CAM mutations in the extracellular region.