Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia

Journal of Nippon Medical School

Volumn 74, Issue 1, 2007, Pages 65-69

  Watanabe, Atsushi ^a,b   Yamamasu, Seiichi ^c   Shinagawa, Toshiya ^b   Suzuki, Yumi ^a   Miyake, Hidehiko ^a,b   Takeshita, Toshiyuki ^b   Orimo, Hideo ^b   Shimada, Takashi ^a,b  

^a NIPPON MEDICAL SCHOOL HOSPITAL   (Japan)

^b NIPPON MEDICAL SCHOOL   (Japan)

^c Osaka Prefecture University   (Japan)

Author keywords

Genetic counseling; Genetic diagnosis; Hypophosphatasia; Prenatal diagnosis; Ultrasonography

Indexed keywords

ALKALINE PHOSPHATASE; TISSUE NONSPECIFIC ALKALINE PHOSPHATASE; UNCLASSIFIED DRUG;

AMNION FLUID; ARTICLE; BONE MINERALIZATION; CASE REPORT; DISEASE SEVERITY; DNA EXTRACTION; ECHOGRAPHY; FETUS; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GESTATION PERIOD; HOMOZYGOSITY; HUMAN; HYPOPHOSPHATASIA; LABORATORY TEST; NEWBORN; PRENATAL DIAGNOSIS;

ALKALINE PHOSPHATASE; FEMALE; GENETIC COUNSELING; HUMANS; HYPOPHOSPHATASIA; INFANT; MALE; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; SEVERITY OF ILLNESS INDEX; ULTRASONOGRAPHY, PRENATAL;

EID: 33847647503     PISSN: 13454676     EISSN: 13473409     Source Type: Journal    
DOI: 10.1272/jnms.74.65     Document Type: Article

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