about
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontiaMutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Emanuele Agolini
@ast
Emanuele Agolini
@en
Emanuele Agolini
@es
Emanuele Agolini
@nl
type
label
Emanuele Agolini
@ast
Emanuele Agolini
@en
Emanuele Agolini
@es
Emanuele Agolini
@nl
prefLabel
Emanuele Agolini
@ast
Emanuele Agolini
@en
Emanuele Agolini
@es
Emanuele Agolini
@nl
P106
P1153
35503079000
P31
P496
0000-0002-8947-7344