Publication
| Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH, Assessment of 2q231 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder American journal of human genetics89:551-63 2011 |
| PubMed ID: 21981781 |
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| Records Return:
(5)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM24585 | Female | 3 YR | 3044 | proband | MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 | GM |
| GM23711 | Female | 18 MO | 3044 | proband | MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 | GM |
| GM23489 | Male | 3 YR | 3032 | proband | MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 | GM |
| GM23270 | Female | 11 YR | | proband | MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 | GM |
| GM23302 | Male | 8 YR | | proband | CHROMOSOME DELETION | GM |
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