Publication
| Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA, Genetic mapping and exome sequencing identify variants associated with five novel diseases PloS one7:e28936 2011 |
| PubMed ID: 22279524 |
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| Records Return:
(5)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM25977 | Female | 40 YR | 3310 | mother | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34; MRT34 | GM |
| GM25979 | Male | 69 YR | 3310 | grandfather | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34; MRT34 | GM |
| GM25978 | Male | 14 YR | 3310 | proband | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34; MRT34 | GM |
| GM25502 | Female | 2 YR | 3243 | proband | MICROCEPHALY WITH CHORIORETINOPATHY | GM |
| GM25503 | Male | 5 MO | 3243 | brother | MICROCEPHALY WITH CHORIORETINOPATHY | GM |
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