Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene

Clinical Dysmorphology

Volumn 18, Issue 1, 2009, Pages 41-44

  Santos, Heloísa Gonçalves ^a,c   Fernandes, Helena C ^b   Nunes, José L ^b   Almeida, Maria R ^a  

^a INSTITUTO DE MEDICINA MOLECULAR JOÃO LOBO ANTUNES   (Portugal)

^b HOSPITAL CENTRAL DO FUNCHAL   (Portugal)

^c Genomed   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CASE REPORT; CHILD; CLINICAL FEATURE; EYE EXAMINATION; FEMALE; GENE MUTATION; HUMAN; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SMITH MCCORT SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; FEMALE; HUMANS; MUTATION; PORTUGAL; PROTEINS; SYNDROME;

EID: 58149215979     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32831868ea     Document Type: Article

References (9)

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