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Revue de Chirurgie Orthopédique et Traumatologique, 2013
Summary Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation or dislocation of the patellae causing knee instability
S. Lippacher +3 more
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Summary Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation or dislocation of the patellae causing knee instability
S. Lippacher +3 more
openaire +1 more source
American Journal of Medical Genetics Part A, 2012
AbstractThe Simpson–Golabi–Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X‐linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene.
Garavelli, L. +14 more
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AbstractThe Simpson–Golabi–Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X‐linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene.
Garavelli, L. +14 more
openaire +3 more sources
Hoof nail deformity: a previously unknown hereditary nail malformation
British Journal of Dermatology, 2013G.W. Jung, T.G. Salopek
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A single-cell atlas of the normal and malformed human brain vasculature
Science, 2022Ethan A Winkler +2 more
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