Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification

American Journal of Medical Genetics, Part A

Volumn 167, Issue 5, 2015, Pages 931-973

  Hunter, Jesse M ^a   Kiefer, Jeff ^a   Balak, Christopher D ^a   Jooma, Sonya ^a   Ahearn, Mary Ellen ^a   Hall, Judith G ^b   Baumbach Reardon, Lisa ^a  

^a TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Arthrogryposis; Arthrogryposis multiplex congenita; Contractures; Multiple congenital contractures; Myopathy; Spinal muscular atrophy; X linked

Indexed keywords

FILAMIN A;

ABRUZZO ERICKSON SYNDROME; AGYRIA; AICARDI SYNDROME; ARTHROGRYPOSIS; CALCIFYING CHONDRODYSTROPHY; CATEL MANZKE SYNDROME; CENTRONUCLEAR MYOPATHY; CHONDRODYSPLASIA PUNCTATA; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; DANDY WALKER SYNDROME; DISEASE ASSOCIATION; DYSOSTOSIS; DYSPLASIA; ECTODERMAL DYSPLASIA; EXOME; FACIOCARDIOMELIC DYSPLASIA; FACIOGENITAL DYSPLASIA; FETAL AKINESIA SYNDROME; FG SYNDROME; FLNA GENE; GENE; GENE IDENTIFICATION; GENE ONTOLOGY; GENETIC DISORDER; GENOME ANALYSIS; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HEYEN SYNDROME; HOLOPROSENCEPHALY; HOMFRAY SYNDROME; HUMAN; HYPOGONADISM; INGUINAL HERNIA; JOHNSTON SYNDROME; JOINT CONTRACTURE; JUBERG MARSIDI SYNDROME; LESCA SYNDROME; LUJAN FRYN SYNDROME SYNDROME; MASA SYNDROME; MED12 GENE; MENTAL DEFICIENCY; MICROCEPHALY; MICROGYRIA; MILES CARPENTER X LINKED MENTAL RETARDATION SYNDROME; MULTIPLE PTERYGIUM SYNDROME; MUTATIONAL ANALYSIS; MYOPATHY; NASODIGITOACOUSTIC SYNDROME; NONHUMAN; OBESITY; OHDO SYNDROME; OPITZ KAVEGGIA SYNDROME; OPTIC NERVE ATROPHY; OTOPALATODIGITAL SYNDROME; PODDER SYNDROME; PRIORITY JOURNAL; PROUD SYNDROME; REVIEW; SEIZURE; SIMPSON GOLABI BEHMEL SYNDROME; SPINAL MUSCULAR ATROPHY; TARP SYNDROME; VACTERL SYNDROME; VAN BENTHEM SYNDROME; WIEACKER WOLF SYNDROME; X CHROMOSOME LINKED DISORDER; CONTRACTURE; GENETIC DISEASES, X-LINKED; GENETICS; METABOLISM; MUSCULAR ATROPHY, SPINAL; MUSCULAR DISEASES; MUTATION; PATHOLOGY; PEDIGREE;

ARTHROGRYPOSIS; CONTRACTURE; GENETIC DISEASES, X-LINKED; HUMANS; METABOLIC NETWORKS AND PATHWAYS; MUSCULAR ATROPHY, SPINAL; MUSCULAR DISEASES; MUTATION; PEDIGREE;

EID: 84927911892     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36934     Document Type: Review

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