A novel APC mutation defines a second locus for cenani-lenz syndrome

Journal of Medical Genetics

Volumn 52, Issue 5, 2015, Pages 317-321

  Patel, Nisha ^a   Faqeih, Eissa ^b   Anazi, Shams ^a   Alfawareh, Mohammad ^b   Wakil, Salma M ^a   Colak, Dilek ^a   Alkuraya, Fowzan S ^a,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; BETA CATENIN; LIPOPROTEIN RECEPTOR; LIPOPROTEIN RECEPTOR PROTEIN 4; UNCLASSIFIED DRUG; WNT PROTEIN;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CENANI LENZ SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EXOME; FAMILY; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HUMAN; PRIORITY JOURNAL; RECEPTOR UPREGULATION; SAUDI; SCOLIOSIS; SIGNAL TRANSDUCTION; SYNDACTYLY; WHOLE EXOME SEQUENCING; WILD TYPE; CASE REPORT; CHROMOSOME MAP; CONSANGUINITY; FACIES; FEMALE; GENE EXPRESSION REGULATION; GENE ORDER; GENE REGULATORY NETWORK; GENETIC ASSOCIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION; PEDIGREE; PHENOTYPE; QUANTITATIVE TRAIT LOCUS;

ADENOMATOUS POLYPOSIS COLI PROTEIN; ALTERNATIVE SPLICING; BETA CATENIN; CHROMOSOME MAPPING; CONSANGUINITY; EXOME; FACIES; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE ORDER; GENE REGULATORY NETWORKS; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; QUANTITATIVE TRAIT LOCI; SYNDACTYLY;

EID: 84930650389     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102850     Document Type: Article

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