Associated Papers
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2023
Rothmund-Thomson syndrome, a disorder far from solved.
Martins DJ et al.
Frontiers in Aging, 2023
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
Leduc MS et al.
American Journal of Medical Genetics. Part A, 2016
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