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Achondrogenesis.

作者信息

Kapur Raj P

机构信息

Department of Laboratories, Children's Hospital and Regional Medical Center, Seattle, WA 98105, USA.

出版信息

Pediatr Dev Pathol. 2007 Jul-Aug;10(4):253-5. doi: 10.2350/07-01-0216.1.

DOI:10.2350/07-01-0216.1
PMID:17638434
Abstract

In this issue of Pediatric and Developmental Pathology, Aigner and colleagues report a detailed investigation of cartilage matrix changes in a 14-week fetus with achondrogenesis type IA. The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias.

摘要

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Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases.通过多学科评估诊断产前发病的II型软骨发育不全:2例回顾性研究
Case Rep Obstet Gynecol. 2019 Jul 17;2019:7981767. doi: 10.1155/2019/7981767. eCollection 2019.
2
Visceral manifestations of hypochondrogenesis.
Virchows Arch. 2008 Aug;453(2):203-7. doi: 10.1007/s00428-008-0630-9. Epub 2008 Jul 19.