Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.
McCann, Liza J; McPartland, Jo; Barge, Dawn; Strain, Lisa; Bourn, David; Calonje, Eduardo; Verbov, Julian; Riordan, Andrew; Kokai, George; Bacon, Chris M; Wright, Michael; Abinun, Mario.
J Clin Immunol
; 34(1): 42-8, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24217815
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report.
Spondyloepihyseal Dysplasia Congenita.
Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.
A human case of SLC35A3-related skeletal dysplasia.
Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.
Decreased telomere length in children with cartilage-hair hypoplasia.
Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.