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The Journal of Clinical Endocrinology and Metabolism|July 21, 2005
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb developmentG Pinto, V Abadie, R Mesnage, et al.American Journal of Medical Genetics|December 18, 1996
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis associationM Bahuau, W Flintoff, B Assouline, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|March 15, 2019
Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literatureS Leclerc-Mercier, D Moshous, B Neven, et al.Nature Genetics|November 1, 1996
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung diseaseR Salomon, T Attié, A Pelet, et al.American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|July 17, 2021
Characteristics of children and adolescents with atopic dermatitis who attended therapeutic patient educationS Barbarot, F Boralevi, J Shourick, et al.Journal of Medical Genetics|July 5, 2005
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)P J Ferguson, S Chen, M K Tayeh, et al.Journal of Medical Genetics|January 31, 2006
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusL de Pontual, A Pelet, D Trochet, et al.Human Molecular Genetics|December 1, 1994
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogeneL M Mulligan, C Eng, T Attié, et al.American Journal of Medical Genetics|October 12, 2002
Clinical and genetic heterogeneity of Seckel syndromeL Faivre, M Le Merrer, S Lyonnet, et al.Pageof 38