Cancer derived from thyroid follicular epithelial cells is common; it represents the most
common endocrine malignancy. The molecular features of sporadic tumors have been …

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term to describe a diverse
range of developmental disorders. Research to date has predominantly emerged from …

Purpose Postzygotic (somatic) variants in the mTOR pathway genes cause a spectrum of
distinct developmental abnormalities. Accurate classification of somatic variants in this group …

Abstract Background Klippel–Trenaunay syndrome (KTS) is a rare slow-flow combined
vascular malformation with limb hypertrophy. KTS is thought to lie on the PIK3CA-related …

Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of
connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large …

PIK3CA 相关性过度生长疾病(PROS) 是体细胞PIK3CA 基因嵌合突变导致的一系列非对称,
不成比例的头部, 躯干, 腹腔脏器或肢体的过度生长性疾病. PROS 对患者的外观 …

Somatic mutations occur frequently and can arise during embryogenesis, resulting in the
formation of a patchwork of mutant clones. Such mosaicism has been implicated in a broad …

Background Skeletal deformity is characterized by an abnormal anatomical structure of bone
and cartilage. In our previous studies, we have found that a substantial proportion of patients …

Congenital muscular hypertrophy is a rare overgrowth disorder in the phosphatidylinositol-3-
kinase related spectrum. In the past 3 years, ten patients with 11 limbs involved were treated …

Macrodactyly is a rare congenital limb difference manifesting as an overgrowth of one or
more fingers or toes. The pathological process affects all tissues of the ray in the hand or …