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American Journal of Medical Genetics. Part A|January 12, 2005
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathiesAndreas Zankl, Luitgard Neumann, Jaako Ignatius, et al.Journal of Developmental and Behavioral Pediatrics : JDBP|January 19, 2010
Developmental milestones in infants and young Australasian children with achondroplasiaPenelope Jane Ireland, Sarah Johnson, Samantha Donaghey, et al.Journal of Paediatrics and Child Health|November 25, 2011
Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 yearsPenelope J Ireland, Sarah Johnson, Samantha Donaghey, et al.Journal of Pediatric Gastroenterology and Nutrition|June 23, 2011
Significance of molecular testing for congenital chloride diarrheaSilvia Lechner, Frank M Ruemmele, Andreas Zankl, et al.Genome Medicine|February 26, 2021
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing dataAndre E Minoche, Ben Lundie, Greg B Peters, et al.Molecular Genetics and Metabolism|February 7, 2021
Utility of genetic testing for prenatal presentations of hypophosphatasiaBrian Sperelakis-Beedham, Agnès Taillandier, Christelle Domingues, et al.Human Molecular Genetics|October 26, 2014
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defectsAideen M McInerney-Leo, Duncan B Sparrow, Jessica E Harris, et al.Orphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.Scientific Reports|April 21, 2016
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionClaudio R Cortés, Aideen M McInerney-Leo, Ida Vogel, et al.Journal of Paediatrics and Child Health|January 11, 2023
Australian guidelines for the management of children with achondroplasiaLouise J Tofts, Jennifer A Armstrong, Stephanie Broley, et al.Pageof 8