https://www.selleckchem.com/pr....oducts/cremophor-el.
We present a patient with pseudopseudohypoparathyroidism (PPHP) who developed both gout and synovial chondromatosis, in addition to the classical Albright's hereditary osteodystrophy phenotype. The patient's clinical course, laboratory data, and imaging are presented. The patient is a 40-year-old male with no pertinent family history who presented with findings of Albright's hereditary osteodystrophy, including short stature, obesity, rounded face, shortened fourth and fifth digits, and osteoma cutis (heterotopic subcutaneous ossif

https://www.selleckchem.com/pr....oducts/crenolanib-cp
According to the genetic variant guidelines of American College of Medical Genetics and Genomics, SLC35A2 gene c.335CA (p.Thr112Lys) variant was predicted to be likely pathogenic (PS2+PM2+PP3). The variant of SLC35A2 gene c.335CA(p.Thr112Lys) may be the cause of the disease in the child. A(p.Thr112Lys) may be the cause of the disease in the child. To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Cli