Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

A novel homozygousPAM16mutation in a patient with a milder phenotype and longer survival

(2016) Shahida Moosa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

(2016) Long Guo et al.   JOURNAL OF HUMAN GENETICS

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

(2016) Long Guo et al.   JOURNAL OF HUMAN GENETICS

A second locus for schneckenbecken dysplasia identified by a mutation in the gene encodinginositol polyphosphate phosphatase-like 1(INPPL1)

(2015) Hane Lee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nosology and classification of genetic skeletal disorders: 2015 revision

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

Primary immunodeficiency update

(2015) Dominique C. Pichard et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

(2014) S. Miyatake et al.   CLINICAL GENETICS

Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

(2014) Shuji Mizumoto et al.   Biomed Research International

Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans

(2013) Shuji Mizumoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

On the Roles and Regulation of Chondroitin Sulfate and Heparan Sulfate in Zebrafish Pharyngeal Cartilage Morphogenesis

(2012) Katarina Holmborn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

(2011) Sevjidmaa Baasanjav et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cell Surface Heparan Sulfate Chains Regulate Local Reception of FGF Signaling in the Mouse Embryo

(2011) Kayo Shimokawa et al.   DEVELOPMENTAL CELL

Important role of heparan sulfate in postnatal islet growth and insulin secretion

(2009) Iwao Takahashi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS