PAPSS2 and skeletal dysplasia: A Turkish girl with a short stature, hyperandrogenic anovulation and skeletal dysplasia was compound heterozygous for a missense (143 C > G transversion leading to T48R substitution at a conserved residue in the adenosine 5-prime-phosphosulfate kinase domain) and a nonsense mutation (985C > T transition resulting in R329X) in PAPSS2.