Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing

PLoS ONE

Volumn 11, Issue 1, 2016, Pages

  Lal, Dennis ^a,b,c   Neubauer, Bernd A ^b   Toliat, Mohammad R ^a   Altmöller, Janine ^a   Thiele, Holger ^a   Nörnberg, Peter ^a,c   Kamrath, Clemens ^b   Schänzer, Anne ^b   Sander, Thomas ^a   Hahn, Andreas ^b   Nothnagel, Michael ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM PHOSPHATE COTRANSPORTER 2C; MUSCLE PROTEIN; SELENOPROTEIN; SEPN1 PROTEIN, HUMAN; SLC34A3 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CONGENITAL DISORDER; CONSANGUINITY; CONTROLLED STUDY; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HOMOZYGOSITY MAPPING; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; MALE; MYOPATHY; NEXT GENERATION SEQUENCING; PHENOTYPE; PRESCHOOL CHILD; RARE DISEASE; SCHOOL CHILD; SEPN1 GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SLC34A3 GENE; TURKISH CITIZEN; WHOLE EXOME SEQUENCING; YOUNG ADULT; ADOLESCENT; COMPLICATION; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; HYPOPHOSPHATEMIC RICKETS; MUTATION; THOMSEN DISEASE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUSCLE PROTEINS; MUTATION; MYOTONIA CONGENITA; RARE DISEASES; RICKETS, HYPOPHOSPHATEMIC; SELENOPROTEINS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIC;

EID: 84958149422     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0146040     Document Type: Article

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