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Cover Image, Volume 187C, Number 3, September 2021
Publication year - 2021
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Reports
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31817
Subject(s) - cover (algebra) , volume (thermodynamics) , mathematics , statistics , geology , physics , engineering , mechanical engineering , quantum mechanics
Radiographs of a patient with a new type of skeletal ciliopathy due to biallelic variants in the KIAA0753 gene. These images show the follow‐up of radiological changes from 6 months to 4 years of age. The figure also shows the electropherogram with the mutation in KIAA0753 (c.[970C>T]) in homozygosis.