Associated Papers
Prenatal Diagnosis of Geleophysic Dysplasia Type 1 in a Family Presented With Recurrent Increased Nuchal Translucency and Hydrocephalus.
Liang XL et al.
Prenatal Diagnosis, 2026
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.
Piccolo P et al.
Molecular Genetics and Metabolism Reports, 2019
Novel mutations in geleophysic dysplasia type 1.
Porayette P et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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