clinical exome

Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features
Samin A Sajan, Jaya Ganesh, Deepali N Shinde, Zöe Powis, Maria I Scarano, Jennifer Stone, Susan Winter, Sha Tang

Journal of Medical Genetics Dec 2019, 56 (12) 850-854; DOI: 10.1136/jmedgenet-2018-105639

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clinical exome