Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1102-1105

  Smigiel, Robert ^a   Jakubiak, Aleksandra ^a   Lombardi, Maria Paola ^b   Jaworski, Wojciech ^a   Slezak, Ryszard ^a   Patkowski, Dariusz ^a   Hennekam, Raoul C ^b  

^a WROCLAW MEDICAL UNIVERSITY   (Poland)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Anophthalmia; Facial clefts; Focal dermal hypoplasia; Golz Gorlin syndrome; Limb malformations; Pentalogy of Cantrell; PORCN

Indexed keywords

AMINO ACID SUBSTITUTION; ANOPHTHALMIA; ARTICLE; BASAL CELL NEVUS SYNDROME; CASE REPORT; CHROMOSOME ANALYSIS; COMORBIDITY; DIAPHRAGM HERNIA; DISEASE SEVERITY; ECTOPIA CORDIS; FEMALE; GENE; HUMAN; INFANT; LIMB MALFORMATION; LIP MALFORMATION; NOSE MALFORMATION; OMPHALOCELE; PENTALOGY OF CANTRELL; PHYSICAL EXAMINATION; POINT MUTATION; PORCN GENE; PRIORITY JOURNAL; SCANTY HAIR; SEQUENCE ANALYSIS; SKIN APLASIA; THORAX MALFORMATION; UNILATERAL HEARING LOSS;

FEMALE; FOCAL DERMAL HYPOPLASIA; HUMANS; INFANT; MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 79955009384     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33895     Document Type: Article

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