Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: Unusual clinical associations and novel claudin16 mutation in an egyptian family

Clinical and Experimental Nephrology

Volumn 13, Issue 4, 2009, Pages 288-294

  Al Haggar, Mohammad ^a   Bakr, Ashraf ^b   Tajima, Toshihiro ^c   Fujieda, Kenji ^d   Hammad, Ayman ^b   Soliman, Othman ^a   Darwish, Ahmad ^b   Al Said, Afaf ^a   Yahia, Sohier ^a   Abdel Hady, Dina ^a  

^a MANSOURA UNIVERSITY   (Egypt)

^b MANSOURA UNIVERSITY CHILDREN S HOSPITAL   (Egypt)

^c HOKKAIDO UNIVERSITY   (Japan)

^d ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

CLDN16; Familial hypomagnesemia with hypercalciuria and nephrocalcinosis; Paracellin 1

Indexed keywords

CLAUDIN 16;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONSANGUINITY; EGYPT; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; HUMAN; HYPERCALCIURIA; HYPOMAGNESEMIA; KIDNEY CALCIFICATION; MALE; PATHOGENESIS;

BASE SEQUENCE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EGYPT; EXONS; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERCALCIURIA; INCIDENTAL FINDINGS; KIDNEY FAILURE, CHRONIC; MAGNESIUM DEFICIENCY; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; NEPHROCALCINOSIS; PEDIGREE; PHENOTYPE; RENAL TUBULAR TRANSPORT, INBORN ERRORS;

EID: 68749116395     PISSN: 13421751     EISSN: 14377799     Source Type: Journal    
DOI: 10.1007/s10157-008-0126-6     Document Type: Article

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