Archives of Medical Research · 2016 · 29 citations · 13 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsGenetic DisordersGenetic SyndromesRare Disease Genetics
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FAMILIAL GLUCOCORTICOID DEFICIENCY WITH ACHALASIA OF THE CARDIA AND DEFICIENT TEAR PRODUCTION
Jeremy Allgrove, Graham Clayden, David Grant et al. · The Lancet · 1978 · 452 citations
Mutant WD-repeat protein in triple-A syndrome
A Tullio-Pelet, Rémi Salomon, S. Hadj‐Rabia et al. · Nature Genetics · 2000 · 320 citations