about
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experienceRPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.Dysmorphology at a distance: results of a web-based diagnostic serviceCEMARA an information system for rare diseases.Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.INTU-related oral-facial-digital syndrome type VI: a confirmatory report.EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorderLEF1 haploinsufficiency causes ectodermal dysplasiaExpanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaOverlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsFurther delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureReport of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
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description
investigador
@es
researcher
@en
wetenschapper
@nl
type
P1053
E-7287-2014
P106
P1153
7102892249
P31
P496
0000-0003-4819-0264