Imbard, Apolline Pasmant, Eric Sabbagh, Audrey Luscan, Armelle Soares, Magali Goussard, Philippe Blanché, Hélène Laurendeau, Ingrid Ferkal, Salah Vidaud, Michel
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Published in
Journal of Human Genetics
Neurofibromatosis type 1 (NF1) is caused by dominant loss-of-function mutations of the tumor suppressor NF1 containing 57 constitutive coding exons. A huge number of different pathogenic NF1 alterations has been reported. The aim of the present study was to evaluate the usefulness of a multiplex ligation-dependent probe amplification (MLPA) approac...
Benito-Sanz, Sara Belinchon-Martínez, Alberta Aza-Carmona, Miriam de la Torre, Carolina Huber, Celine González-Casado, Isabel Ross, Judith L Thomas, N Simon Zinn, Andrew R Valérie Cormier-Daire
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Published in
Journal of Human Genetics
Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the skeletal growth. Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, Léri-Weill dyschondrosteosis (LWD) and L...
