Singleton-Merten syndrome: An autosomal dominant disorder with variable expression

American Journal of Medical Genetics, Part A

Volumn 161, Issue 2, 2013, Pages 360-370

  Feigenbaum, Annette ^a   Müller, Christine ^b   Yale, Christopher ^c   Kleinheinz, Johannes ^b   Jezewski, Peter ^d   Kehl, Hans Gerd ^b   Macdougall, Mary ^d   Rutsch, Frank ^b   Hennekam, Raoul C M ^e  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c IPSWICH HOSPITAL NHS TRUST   (United Kingdom)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Acro osteolysis; Aortic calcification; Autosomal dominant; Dental abnormalities; Glaucoma; Psoriasis; Short dental roots; Singleton Merten syndrome

Indexed keywords

ACROOSTEOLYSIS; ADOLESCENT; ADULT; ALVEOLAR BONE LOSS; AORTA CALCIFICATION; ARTERY CALCIFICATION; ARTHROPATHY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DENTAL CARIES; FACE MALFORMATION; FAMILY STUDY; FEMALE; GLAUCOMA; HEART ARRHYTHMIA; HUMAN; JOINT LAXITY; LIGAMENT DISEASE; MALE; MALFORMATION SYNDROME; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; OSTEOPENIA; PERIODONTAL DISEASE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSORIASIS; SCHOOL CHILD; SCOLIOSIS; SHORT STATURE; SINGLETON MERTEN SYNDROME; TENDON RUPTURE; TOOTH DISEASE; TOOTH ERUPTION; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; AORTIC DISEASES; CHILD, PRESCHOOL; DENTAL ENAMEL HYPOPLASIA; FEMALE; GENES, DOMINANT; HUMANS; INFANT; MALE; METACARPUS; MUSCULAR DISEASES; MYOCARDIUM; ODONTODYSPLASIA; OSTEOPOROSIS; PHENOTYPE; PSORIASIS; SKULL; TOOTH LOSS; VASCULAR CALCIFICATION;

EID: 84872969166     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35732     Document Type: Article

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