Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient withB4GALT7deficiency and review of the literature

Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height

(2012) Julian C. Lui et al.   HUMAN MOLECULAR GENETICS

Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder

(2012) Andrew Dauber et al.   JOURNAL OF PEDIATRICS

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

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

Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

(2010) Jing Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers–Danlos syndrome

(2010) Sophie Rahuel-Clermont et al.   BIOCHEMICAL JOURNAL

Ehlers-Danlos features with progeroid facies and mild mental retardation

(2010) Alejandro Hernández et al.   CLINICAL GENETICS

A distinct variant of the Ehlers-Danlos syndrome

(2010) A. Hernández et al.   CLINICAL GENETICS

Third case of a distinct variant of the Ehlers-Danlos Syndrome (EDS)

(2010) A. Hernández et al.   CLINICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The developmental spectrum of proximal radioulnar synostosis

(2009) Alison M. Elliott et al.   SKELETAL RADIOLOGY