Carolyn Bay

TL;DR: A high SPRED1 mutation detection rate was found in NF1 mutation-negative families with an autosomal dominant phenotype of CALMs with or without freckling and no other NF1 features, and NFLS was not associated with the peripheral and central nervous system tumors seen inNF1.

TL;DR: The results rule out the involvement of AKT3, and implicate CEP170 and/or ZNF238 as novel genes causative for CCA in patients with a terminal 1q deletion.

TL;DR: It is suspicion and hypothesis that in the presence of persistent, extensive and aberrant Mongolian spots, vascular abnormalities as are seen in K‐T and S‐W carry a worse prognosis and may be particularly true either of children of Asian, Hispanic or African heritage or any individuals from darker pigmented skin groups.

TL;DR: Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four, suggesting endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes–Brocks syndrome.