Mahin Golabi

TL;DR: A new X-linked recessive immunodeficiency syndrome is defined, distinct from other types of HED and immunODeficiency syndromes, and the data provide further evidence that the development of ectodermal appendages is mediated through a tumor necrosis factor/tumor necrosis factors receptor-like signaling pathway, with the IKK signalsome complex playing a significant role.

TL;DR: The findings further demonstrate the genetic heterogeneity associated with HPE, as well as showing that mutations in different components of a single signaling pathway can result in the same clinical condition.

TL;DR: Comparison of cases to similar literature cases suggests the existence of a distinct phenotype that may be separate from SLOS as originally described, and this study reports on 19 infants with a phenotype it is proposed to call Smith-Lemli-Opitz syndrome-Type II, in which major structural abnormalities, male pseudohermaphroditism, and early lethality are common.

TL;DR: The detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome is described and a novel missense mutation was found causing an amino acid to be replaced by a cysteine.

TL;DR: The lack of correlation between the phenotype of 18 affected males from these 7 families and the location and size of the GPC3 gene mutations suggest that SGBS is caused by a nonfunctional G PC3 protein.