Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history
Author:
Publisher
Wiley
Subject
Genetics (clinical)
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1. A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion
2. Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humero-metacarpal (HM) type: Variation or heterogeneity?
3. Mesomelic dysplasia with punctate epiphyseal calcifications?a new entity of chondrodysplasia punctata?
4. Mesomelic dysplasia with short ulna, long fibula, brachymetacarpy, and micrognathia
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1. Surgical Treatment of Chondrodysplasia Punctata Tibial-Metacarpal Type Until Skeletal Maturity;JBJS Case Connector;2022
2. Surgical management of cervical spine deformity in chondrodysplasia punctata;Journal of Neurosurgery: Pediatrics;2017-10
3. Chondrodysplasia punctata tibia metacarpal type;Clinical Dysmorphology;2015-07
4. Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification;American Journal of Medical Genetics Part A;2015-03-19
5. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India;Journal of Applied Genetics;2010-03
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