Publication

Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW, Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy American journal of human genetics76:510-6 2004
PubMed ID: 15645389

Records Return:  (3) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM06333Female9 MO954sisterTRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1
GM06332Female4 YR954sisterTRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1
GM06331Male16 YR954probandTRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1