Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - Further extension of the mutational spectrum

Gene

Volumn 539, Issue 1, 2014, Pages 157-161

  Jamsheer, Aleksander ^a,b   Sowińska Seidler, Anna ^a   Socha, Magdalena ^a   Stembalska, Agnieszka ^c   Kiraly Borri, Cathy ^d   Latos Bieleńska, Anna ^a,b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b NZOZ Center for Medical Genetics   (Poland)

^c WROCLAW MEDICAL UNIVERSITY   (Poland)

^d KING EDWARD MEMORIAL HOSPITAL   (Australia)

Author keywords

Connexin 43; GJA1; Missense mutation; Oculo dento digital dysplasia; Oculo dento osseous syndrome; ODDD; ODDS

Indexed keywords

CONNEXIN 43; GJA1; MISSENSE MUTATION; OCULO-DENTO-DIGITAL DYSPLASIA; OCULO-DENTO-OSSEOUS SYNDROME; ODDD; ODDS;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CONNEXIN 43; CRANIOFACIAL ABNORMALITIES; EYE ABNORMALITIES; FACIES; FEMALE; FINGERS; FOOT DEFORMITIES, CONGENITAL; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; SYNDACTYLY; TOOTH ABNORMALITIES;

EID: 84894361479     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.01.066     Document Type: Article

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