Bi‐allelic mutations of CCDC88C CCDC88C are a rare cause of severe congenital hydrocephalus

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作者： Ruggeri Gaia ^[1] ; Timms Andrew E. ^[2] ; Cheng Chi ^[3] ; Weiss Avery ^[4] ; Kollros Peter ^[5] ; Chapman Teresa ; Tully Hannah ; Mirzaa Ghayda M.

作者单位： Center for Integrative Brain ResearchSeattle Children's Research InstituteSeattle,Washington ^[1] Division of Pediatric NeurologySeattle Children's HospitalSeattle,Washington ^[2] Division of Ophthalmology, Roger H. Johnson Vision LabSeattle Children's HospitalSeattle,Washington ^[3] Department of RadiologySeattle Children's HospitalSeattle,Washington ^[4] Center for Developmental Biology and Regenerative MedicineSeattle Children's Research ^[5]

关键词 autosomal recessive CCDC88C DAPLE hydrocephalus

发布时间 2020-05-08

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American journal of medical genetics, Part A

2018年176A卷3期

676-681页

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Bi‐allelic mutations of CCDC88C CCDC88C are a rare cause of severe congenital hydrocephalus

American journal of medical genetics, Part A

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American journal of medical genetics, Part A

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Bi‐allelic mutations of CCDC88C CCDC88C are a rare cause of severe congenital hydrocephalus

American journal of medical genetics, Part A

相似文献

American journal of medical genetics, Part A

相关期刊

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