Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia

European Journal of Human Genetics

Volumn 22, Issue 10, 2014, Pages 1160-1164

  Hofmann, Christine ^a   Girschick, Hermann ^b   Mornet, Etienne ^c   Schneider, Doris ^a   Jakob, Franz ^a   Mentrup, Birgit ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b VIVANTES HOSPITAL   (Germany)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

genotype; hypophosphatasia; phenotype

Indexed keywords

ALKALINE PHOSPHATASE; CALCIUM; CREATININE; PHOSPHATE; ALPL PROTEIN, HUMAN;

ADOLESCENT; ALKALINE PHOSPHATASE BLOOD LEVEL; ALLELE; ALPL GENE; ARTICLE; BONE MINERALIZATION; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; DENTAL CARIES; ENZYME ACTIVITY; FAILURE TO THRIVE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HYPOPHOSPHATASIA; IN VITRO STUDY; INTRACRANIAL HYPERTENSION; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; OXYGEN SUPPLY; PERIODONTAL DISEASE; PHENOTYPIC VARIATION; PHOSPHATE BLOOD LEVEL; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; THORAX DEFORMITY; VALGUS KNEE; CHROMOSOME MAP; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETICS; HEK293 CELL LINE; INFANT; METABOLISM; MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS;

ADOLESCENT; ALKALINE PHOSPHATASE; ALLELES; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC COUNSELING; GENETIC VARIATION; HEK293 CELLS; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; INFANT; MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS;

EID: 84927020221     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.10     Document Type: Article

References (11)

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