A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

Clinical Genetics

Volumn 78, Issue 1, 2010, Pages 94-97

  Jamsheer, A ^a   Badura Stronka, M ^b   Sowinska A ^b   Debicki, S ^b   Kiryluk, K ^c   Latos Bielenska A ^b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b NZOZ Center for Medical Genetics   (Poland)

^c Department of Medicine Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION ALPHA 1 PROTEIN; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG; CONNEXIN 43; GJA1 PROTEIN, HUMAN;

CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; LETTER; MALE; NUCLEOTIDE SEQUENCE; OCULODENTODIGITAL SYNDROME; PRIORITY JOURNAL; SCHOOL CHILD; ADOLESCENT; EYE MALFORMATION; GENETICS; HETEROZYGOTE; TOOTH MALFORMATION;

ADOLESCENT; CONNEXIN 43; EYE ABNORMALITIES; HETEROZYGOTE; HUMANS; MALE; TOOTH ABNORMALITIES;

EID: 77954570192     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01412.x     Document Type: Letter

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