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Frontiers in Public Health|March 13, 2025
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutionsSimone Baldovino, Savino Sciascia, Claudio Carta, et al.
Human Mutation|March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethalityDorothea Bornholdt, Frank Oeffner, Arne König, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2022
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational studyRavi Savarirayan, Melita Irving, Paul Harmatz, et al.
American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.
Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
Brain : a Journal of Neurology|July 24, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disordersGiuliana Capece, Maria Francesca Di Feo, Evgeniya Melnik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, et al.
American Journal of Human Genetics|January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
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