Publication

Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD, Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations The Journal of allergy and clinical immunology122:1178-84 2008
PubMed ID: 18804272

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Catalog IDGenderAge at SamplingDescription
ID00084Male2 YRCARTILAGE-HAIR HYPOPLASIA; CHH