The skeletal dysplasias

Skeletal Morphogenesis during Embryonic Development

(2012) Yingzi Yang   CRITICAL REVIEWS IN EUKARYOTIC GENE EXPRESSION

Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome

(2010) S. Khan et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

(2009) Deborah Krakow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

(2009) Fleur S Van Dijk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Femoral lengthening in achondroplasia

(2009) K. P. Venkatesh et al.   JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

(2009) Michaela Auer-Grumbach et al.   NATURE GENETICS

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

(2009) Guida Landouré et al.   NATURE GENETICS

Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia

(2009) Justine Bacchetta et al.   PEDIATRIC NEPHROLOGY

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

(2008) Stuart W. Tompson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interplay between TRP channels and the cytoskeleton in health and disease

(2008) K CLARK et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta

(2008) Dustin Baldridge et al.   HUMAN MUTATION

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

(2008) Matthew J Rock et al.   NATURE GENETICS

Endochondral ossification: How cartilage is converted into bone in the developing skeleton

(2007) E.J. Mackie et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY