Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

Prenatal Diagnosis

Volumn 19, Issue 4, 1999, Pages 383-385

  Brookhyser, Karen M ^a   Lipson, Mark H ^a   Moser, Ann B ^b   Moser, Hugo W ^b   Lachman, Ralph S ^c   Rimoin, David L ^c  

^a Kaiser Permanente ^*  (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

DHAPAT synthase deficiency; Dwarfism; Prenatal diagnosis; Rhizomelic chondrodysplasia punctata

Indexed keywords

ACYLTRANSFERASE; SYNTHETASE;

ADULT; ARTICLE; AUTOPSY; BIOCHEMISTRY; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; FEMALE; FETUS; HUMAN; INDUCED ABORTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIODIAGNOSIS;

ADULT; ALKYL AND ARYL TRANSFERASES; AMNIOCENTESIS; CARTILAGE; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; FEMALE; FIBROBLASTS; GESTATIONAL AGE; HUMANS; KARYOTYPING; MALE; MICROBODIES; PLASMALOGENS; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 0032915260     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199904)19:4<383::AID-PD544>3.0.CO;2-S     Document Type: Article

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