日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

南亚儿童吉莱斯皮综合征:病例报告,证实存在ITPR1基因杂合突变,并回顾其临床和分子特征

De Silva, Daham; Williamson, Kathleen A; Dayasiri, Kavinda Chandimal; Suraweera, Nayani; Quinters, Vinushiya; Abeysekara, Hiranya; Wanigasinghe, Jithangi; De Silva, Deepthi; De Silva, Harendra

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

CDC45基因突变(该基因编码起始前复合物的关键组分)会导致梅尔-戈林综合征和颅缝早闭症。

Aimee L Fenwick ,Maciej Kliszczak ,Fay Cooper ,Jennie Murray ,Luis Sanchez-Pulido ,Stephen R F Twigg ,Anne Goriely ,Simon J McGowan ,Kerry A Miller ,Indira B Taylor ,Clare Logan ,Sumita Danda ,Joanne Dixon ,Solaf M Elsayed ,Ezzat Elsobky ,Alice Gardham ,Mariette J V Hoffer ,Marije Koopmans ,Donna M McDonald-McGinn ,Gijs W E Santen ,Ravi Savarirayan ,Deepthi de Silva ,Olivier Vanakker ,Steven A Wall ,Louise C Wilson ,Ozge Ozalp Yuregir ,Elaine H Zackai ,Chris P Ponting ,Andrew P Jackson ,Andrew O M Wilkie ,Wojciech Niedzwiedz ,Louise S Bicknell