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Volumn 25, Issue 3, 2006, Pages 128-133

Short rib-polydactyly syndrome: Lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant

Author keywords

Chondrodysplasias; Neuronal migration disorders; Olfactory dysplasia; Situs inversus; Telangiectasia

Indexed keywords

ADRENAL DISEASE; ARTICLE; AUTOPSY; BRAIN CYST; BRAIN MALFORMATION; BRAIN WEIGHT; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME ANALYSIS; CONGENITAL HEART DISEASE; CORTICAL DYSPLASIA; DISEASE ASSOCIATION; ENDOCARDIAL CUSHION DEFECT; FATALITY; FEMALE; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; JAPAN; KARYOTYPE 46,XX; LUNG HYPOPLASIA; NEUROPATHOLOGY; NEWBORN; PRIORITY JOURNAL; SITUS INVERSUS; TELANGIECTASIA; VAGINA ATRESIA;

EID: 33646435554     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (12)
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    • Majewski F, Pfeiffer RA, Lenz W 1971 Polysyndaktylie, verkürzte Gliedmaßen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms? Z Kinderheilk 111: 118-138
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  • 4
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    • Recurrence of short rib polydactyly syndrome - A rare skeletal dysplasia
    • Malhotra N, Sood M 2000 Recurrence of short rib polydactyly syndrome - a rare skeletal dysplasia. Eur J Obstet Gynecol Reprod Biol 89: 193-195
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    • Malhotra, N.1    Sood, M.2
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    • Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous anomalies: A new type of SRPS or a more severe expression of a known SRPS entity?
    • Martinez-Frias ML, Bermejo E, Urioste M, Egues J, Lopez Soler JA 1993 Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous anomalies: a new type of SRPS or a more severe expression of a known SRPS entity? Am J Med Genet 47: 782-787
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    • Mechanism of polydactyly manifestation in mice and its extrapolation to humans
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  • 7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.