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A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay

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A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay

01 Ocak 2025 Makale Vaka Takdimi
Authors
DOÇENT AYŞEGÜL ALPCAN DOÇENT SERKAN TURSUN MUSTAFA GÜRKAN PROFESÖR NESRİN ŞENBİL

Atıf kopyala

D. A. ALPCAN, D. S. TURSUN, M. GÜRKAN, & P. N. ŞENBİL (2025). A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay. *Clinical Dysmorphology*, 34(2), 58–61. https://doi.org/10.1097/MCD.0000000000000513

Yayın bilgileri

Dergi Clinical Dysmorphology
DOI 10.1097/MCD.0000000000000513
Veri tabanı SCI-Expanded
Cilt / Sayı 34 / 2
Sayfa 58 – 61
Yayına Git
Dergi: Clinical Dysmorphology | Yıl: 2025 | Cilt/Sayı: 34/2 | Sayfa: 58-61 | DOI: 10.1097/MCD.0000000000000513 | Yazarlar: ÖZER LEYLA,ALPCAN AYŞEGÜL,AKTUNA SÜLEYMAN,TURSUN SERKAN,GÜRKAN MUSTAFA,ŞENBİL NESRİN

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