Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

Desbuquois dysplasia type II in a patient with a homozygous mutation inXYLT1and new unusual findings

(2016) Cynthia Silveira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency

(2016) Aleksander Jamsheer et al.   JOURNAL OF HUMAN GENETICS

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

XYLT1 Mutations in Desbuquois Dysplasia Type 2

(2014) Catherine Bui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

(2014) S. Miyatake et al.   CLINICAL GENETICS

De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

(2014) J. Nakajima et al.   CLINICAL GENETICS

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

(2013) Masahiro Nakajima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

(2013) Julia Schreml et al.   HUMAN GENETICS

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

(2011) Lisenka E.L.M. Vissers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

(2010) Sheila Unger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

(2010) Ok-Hwa Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

(2010) T. Furuichi et al.   JOURNAL OF MEDICAL GENETICS

Identification of CANT1 Mutations in Desbuquois Dysplasia

(2009) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia

(2008) Atsushi Miyake et al.   JOURNAL OF HUMAN GENETICS