Associated Papers
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
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
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
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Genomic analysis of primordial dwarfism reveals novel disease genes.
Shaheen R et al.
Genome Research, 2014
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