Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

(2014) Judith G. Hall   European Journal of Medical Genetics

A Gain-of-Function Mutation in Tnni2 Impeded Bone Development through Increasing Hif3a Expression in DA2B Mice

(2014) Xiaoquan Zhu et al.   PLoS Genetics

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

(2013) Anita E. Beck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Myosinopathies: pathology and mechanisms

(2012) Homa Tajsharghi et al.   ACTA NEUROPATHOLOGICA

Spondylocarpotarsal synostosis with hydromyelia, mega cisterna magna, and pachydermoperiostosis

(2012) Muhammad Zaman Khan Assir et al.   CLINICAL DYSMORPHOLOGY

MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

(2012) Daniela De Rocco et al.   European Journal of Medical Genetics

Defective cranial skeletal development, larval lethality and haploinsufficiency in Myod mutant zebrafish

(2011) Yaniv Hinits et al.   DEVELOPMENTAL BIOLOGY

Exome Sequencing Identifies an MYH3 Mutation in a Family with Distal Arthrogryposis Type 1

(2011) David M Alvarado et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Feeding Blueberry Diets in Early Life Prevent Senescence of Osteoblasts and Bone Loss in Ovariectomized Adult Female Rats

(2011) Jian Zhang et al.   PLoS One

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)-A distinct syndrome?

(2010) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spondylocarpotarsal synostosis: A rare case of vertebral segmentation defect

(2009) Siddram J. Patil et al.   INDIAN JOURNAL OF PEDIATRICS

Sheldon-Hall syndrome

(2009) Reha M Toydemir et al.   Orphanet Journal of Rare Diseases

Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity

(2008) B. Isidor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A