Long-term follow-up in Stuve-Wiedemann syndrome: A clinical report

American Journal of Medical Genetics, Part A

Volumn 146, Issue 13, 2008, Pages 1748-1753

  Gaspar, Isabel Mendes ^a   Saldanha, Tiago ^a   Cabral, Pedro ^a   Vilhena, M Manuel ^b   Tuna, Madalena ^b   Costa, Cristina ^c   Dagoneau, Nathalie ^d   Daire, Valerie Cormier ^d   Hennekam, Raoul C M ^e,f  

^a HOSPITAL EGAS MONIZ   (Portugal)

^b HOSPITAL DE SÃO FRANCISCO XAVIER   (Portugal)

^c Department of Neurology   (Portugal)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

LIFR gene; Natural history; Schwartz Jampel syndrome; Stuve Wiedemann syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DISEASE SEVERITY; DYSAUTONOMIA; EXON; FEMALE; FOLLOW UP; GENE; GENE DELETION; HOMOZYGOSITY; HUMAN; LIFR GENE; LONG BONE; MORTALITY; NEUROLOGIC DISEASE; PATHOLOGIC FRACTURE; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SKELETON MALFORMATION; SPINE MALFORMATION; STUVE WIEDEMANN SYNDROME; SURVIVAL;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CHILD; CHILD, PRESCHOOL; DYSAUTONOMIA, FAMILIAL; FEMALE; FOLLOW-UP STUDIES; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; LEUKEMIA INHIBITORY FACTOR RECEPTOR ALPHA SUBUNIT; SEQUENCE DELETION; SYNDROME;

EID: 47249101206     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32325     Document Type: Article

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