A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B

American Journal of Medical Genetics, Part A

Volumn 143, Issue 2, 2007, Pages 195-199

  Castori, Marco ^a,b   Brancati, Francesco ^a,b   Mingarelli, Rita ^a   Mundlos, Stefan ^c   Dallapiccola, Bruno ^a,b,d  

^a IRCCS FONDAZIONE BIETTI   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Apical dystrophy; BDB; Cooks syndrome; Dorsoventral patterning; Ectrodactyly; ROR2

Indexed keywords

ARTICLE; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; COOKS SYNDROME; DISEASE CLASSIFICATION; DISEASE SEVERITY; FEMALE; FINGER MALFORMATION; GENETIC ASSOCIATION; GENETIC PARAMETERS; HUMAN; INFANT; LIMB MALFORMATION; NAIL DISEASE; PHALANX HYPOPLASIA; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIOLOGICAL PARAMETERS;

CHILD, PRESCHOOL; FEMALE; FINGERS; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; SYNDROME; TOES;

EID: 33846002797     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31433     Document Type: Article

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