Specific ultrasonographic features of perinatal lethal hypophosphatasia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 9, 2008, Pages 1200-1204

  Zankl, Andreas ^a,c   Mornet, Etienne ^b   Wong, Shell ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b CENTRE HOSPITALIER DE VERSAILLES   (France)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Achondrogenesis; Bone dysplasia; Hypochondrogenesis; Hypophosphatasia; Lethal; Osteogenesis imperfecta; Prenatal diagnosis; Ultrasound

Indexed keywords

ALKALINE PHOSPHATASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BONE MINERALIZATION; CASE REPORT; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; FETUS ECHOGRAPHY; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HYPOPHOSPHATASIA; NEWBORN; OSTEOGENESIS IMPERFECTA; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; ALKALINE PHOSPHATASE; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENES, LETHAL; GESTATIONAL AGE; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PARENTS; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 43049129618     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32202     Document Type: Article

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