A clinical and molecular analysis of branchio-oculo-facial syndrome patients in russia revealed new mutations in TFAP2A

Annals of Human Genetics

Volumn 79, Issue 2, 2015, Pages 148-152

  Meshcheryakova, Tatiana I ^a   Zinchenko, Rena A ^a,b,c   Vasilyeva, Tatiana A ^c   Marakhonov, Andrey V ^c   Zhylina, Svetlana S ^a,b   Petrova, Nika V ^c   Kozhanova, Tatiana V ^a   Belenikin, Maxim S ^a,b   Petrin, Alexander N ^a,b,d   Mutovin, Gennady R ^a,b  

^a Russian Academy of Medical Sciences   (Russian Federation)

^b PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

^c RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^d A I EVDOKIMOV MOSCOW STATE UNIVERSITY OF MEDICINE AND DENTISTRY   (Russian Federation)

Author keywords

Branchio oculo facial syndrome (BOFS); Cleft lip; Cleft palate; Mutation analysis; TFAP2A gene

Indexed keywords

ARGININE; ASPARTIC ACID; GLYCINE; SERINE; VALINE; TFAP2A PROTEIN, HUMAN; TRANSCRIPTION FACTOR AP 2;

ARTICLE; BRANCHIAL ARCH; BRANCHIO OCULO FACIAL SYNDROME; CASE REPORT; CHILD; CLEFT LIP PALATE; CLINICAL FEATURE; EYE DISEASE; FACE DYSMORPHIA; FEMALE; GENE MUTATION; GENE TFAP2A; HUMAN; MARKER GENE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RUSSIAN FEDERATION; SYNDROME; ADOLESCENT; BRANCHIOOTORENAL SYNDROME; GENETICS; INFANT; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; BRANCHIO-OTO-RENAL SYNDROME; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; RUSSIA; TRANSCRIPTION FACTOR AP-2; YOUNG ADULT;

EID: 84923262977     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12098     Document Type: Article

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