Familial occurrence of multiple pterygium syndrome: Expression in a heterozygote of the recessive form or variability of the dominant form?

American Journal of Medical Genetics, Part A

Volumn 140, Issue 20, 2006, Pages 2227-2230

  Prontera, Paolo ^a,d   Sensi, Alberto ^a,d   Merlo, Luciano ^b   Garani, Gianpaolo ^b   Cocchi, Guido ^c   Calzolari, Elisa ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b S ANNA HOSPITAL   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d Istituto di Genetica Medica   (Italy)

Author keywords

Autosomal recessive; Dominant inheritance; Metacarpal phalangeal pattern profile; Multiple pterygium syndrome; Radiograph; Variable expression

Indexed keywords

ACCURACY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; CARPAL BONE; CASE REPORT; FAMILIAL DISEASE; FEMALE; FUNNEL CHEST; GENE EXPRESSION; HAND PALM; HAND RADIOGRAPHY; HETEROZYGOTE; HUMAN; METACARPAL BONE; PHALANX; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCOLIOSIS; SYMPTOMATOLOGY; SYNDACTYLY; WEBBED NECK;

ABNORMALITIES, MULTIPLE; BONE AND BONES; CHILD, PRESCHOOL; FEMALE; GENES, DOMINANT; HUMANS; MALE; SCOLIOSIS; SYNDROME;

EID: 33749491659     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31428     Document Type: Article

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