Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia

American Journal of Medical Genetics, Part A

Volumn 149, Issue 10, 2009, Pages 2270-2273

  Salpietro, Carmelo Damiano ^a   Briuglia, Silvana ^a   Cutrupi, Maria Concetta ^a   Gallizzi, Romina ^a   Rigoli, Luciana ^a   Dallapiccola, Bruno ^b  

^a UNIVERSITY OF MESSINA   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Cutaneous mastocytosis; Deafness; Microcephaly; Microtia

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CAMPTODACTYLY; CASE REPORT; CLINICAL FEATURE; CONDUCTION DEAFNESS; CRANIOFACIAL MALFORMATION; CUTANEOUS MASTOCYTOSIS; FEMALE; HUMAN; MAST CELL; MASTOCYTOSIS; MENTAL DEFICIENCY; MICROCEPHALY; MICROGNATHIA; MICROTIA; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SKIN BIOPSY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; FEMALE; HEARING LOSS, CONDUCTIVE; HUMANS; MASTOCYTOSIS, CUTANEOUS; MICROCEPHALY; MUSCLE HYPOTONIA;

EID: 70349509922     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33017     Document Type: Article

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