Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Molecular Syndromology

Volumn 7, Issue 1, 2016, Pages 12-18

  Romeo Bertola, Débora ^a   Honjo, Rachel S ^a   Baratela, Wagner A R ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Bent bones; LIFR; Schwartz Jampel syndrome type 2; Skeletal dysplasia; St ve Wiedemann syndrome

Indexed keywords

LEUKEMIA INHIBITORY FACTOR RECEPTOR;

ARTHROPATHY; AUTOSOMAL RECESSIVE DISORDER; BONE BOWING; BONE MINERALIZATION; CAMPOMELIC DYSPLASIA; CAMPTODACTYLY; CELL DIFFERENTIATION; DIASTROPHIC DYSPLASIA; DYSAUTONOMIA; FACE DYSMORPHIA; FEEDING DIFFICULTY; FETUS ECHOGRAPHY; GAIT DISORDER; GENETIC HETEROGENEITY; GENETIC VARIATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; JOINT EFFUSION; KYPHOMELIC DYSPLASIA; MICROMELIA; MISSENSE MUTATION; MONOGENIC DISORDER; MORTALITY; MOTOR DEVELOPMENT; NONSENSE MUTATION; OLIGOHYDRAMNIOS; OSTEOCLAST; OSTEOPOROSIS; PATHOLOGIC FRACTURE; PHENOTYPE; PRENATAL DISORDER; PREVALENCE; PRIORITY JOURNAL; QUADRIPLEGIA; RESPIRATORY TRACT DISEASE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; SPINE MALFORMATION; STUVE WIEDEMANN SYNDROME; SURVIVOR; TERTIARY CARE CENTER; UNITED ARAB EMIRATES;

EID: 84961231323     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000444729     Document Type: Review

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