The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …

Overgrowth, defined as height and/or OFC≥+ 2 SD, characterizes a subset of patients with
syndromic intellectual disability (ID). Many of the disorders with overgrowth and ID (OGID) …

Skin findings can be critical to determining whether a patient with
lymphangioleiomyomatosis (LAM), a progressive pulmonary disease that predominantly …

Background Somatic mosaicism for PIK3CA mutations causes various types of growth
disorders, which have been summarized under the term PROS (PIK3CA related overgrowth …

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder
characterized principally by multiorgan development of benign tumors and hamartomas …

A 19-year-old man presented with gradually progressive thickening of the fourth finger of his
right hand, which was first noticed at 7 years of age. There was no pain or difficulty in moving …

Macrodactyly as a rare manifestation of tuberous sclerosis Page 1 Images Macrodactyly as a
rare manifestation of tuberous sclerosis Eduardo Bandeira* Department of Radiology, Centro …

A 38 year lady had recurrent generalized and myoclonic seizures since 6 years of age. On
examination she had facial adenoma sebaceum and periungal fibromas, cutaneous …

Limb overgrowth associated with a mosaic tsc2 second-hit in tuberous sclerosis complex -
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