Article
TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia.
Human genomics - 8 Jul 2021
Mohajeri Mahsa Sadat Asl, Eslahi Atieh, Khazaii Zeinab, Moradi Mohammad Reza, Pazhoomand Reza, Farrokhi Shima, Feizabadi Masoumeh Heidari, Alizadeh Farzaneh, Mojarrad Majid
Abstract excerpt
INTRODUCTION: Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exome sequencing (WES) for detection of skeletal dysplasia causing mutation in a fetus affected to severe lethal skeletal dysplasia. PATIENT: Fetus was assessed by ultrasonography in second...
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