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Hypophosphatasia: screening and family investigation
Author(s) -
Rubecz I.,
Méhes K.,
Kluiber L.,
Bozzay L.,
Weisenbach J.,
Fenyvesi J.
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb00645.x
Subject(s) - hypophosphatasia , medicine , pediatrics , biology , alkaline phosphatase , enzyme , biochemistry
An 18‐month‐old patient with juvenile hypophosphatasia and cleidocranial dysostosis is reported. Fifty‐three of the 83 members of the family were examined biochemically, and among these were found four homozygotes and 25 heterozygotes for hypophosphatasia. No additional cases of cleidocranial dysostosis were found either in the family or in a screening study.