Stüve-Wiedemann syndrome and related bent bone dysplasias

Clinical Genetics

Volumn 82, Issue 1, 2012, Pages 12-21

  Akawi, N A ^a   Ali, B R ^a   Al Gazali, L ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

Bent bone; Bone dysplasia; Campomelic dysplasia; Cytokine; Kyphomelic dysplasia; LIFR; SOX9; St ve; Wiedemann syndrome

Indexed keywords

GLYCOPROTEIN GP 130; LEUKEMIA INHIBITORY FACTOR RECEPTOR; TRANSCRIPTION FACTOR SOX9;

APNEA; ASPIRATION PNEUMONIA; AUTONOMIC DYSFUNCTION; AUTOSOMAL RECESSIVE DISORDER; BONE BOWING; BONE DYSPLASIA; CAMPOMELIC DYSPLASIA; CAMPTODACTYLY; CHILDHOOD MORTALITY; CHRONIC LUNG DISEASE; CLINICAL FEATURE; CYTOKINE RELEASE; DEVELOPMENTAL DISORDER; DISEASE COURSE; DWARFISM; DYSPHAGIA; FACE MUSCLE; FEEDING DISORDER; FEMUR; FIBULA; GENE MUTATION; HUMAN; HYPERTHERMIA; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; KYPHOMELIC DYSPLASIA; MICROMELIA; MUSCLE CONTRACTION; NEWBORN PERIOD; NONHUMAN; OLIGOHYDRAMNIOS; OSTEOPENIA; PATHOPHYSIOLOGY; PES EQUINOVARUS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SKELETON MALFORMATION; STUVE WIEDEMANN SYNDROME; SWEATING; THORAX; TIBIA;

BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; DEGLUTITION DISORDERS; EXOSTOSES, MULTIPLE HEREDITARY; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; NFI TRANSCRIPTION FACTORS; OSTEOCHONDRODYSPLASIAS; PRIMARY DYSAUTONOMIAS; RECEPTORS, OSM-LIF;

EID: 84862258319     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01852.x     Document Type: Review

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