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Year | Number of Results |
---|---|
2011 | 2 |
2013 | 2 |
2024 | 0 |
PubMed (cited) for id: 614207
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PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011.
Am J Hum Genet. 2013.
PMID: 23561847
Free PMC article.
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R.
Hansen L, et al.
Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008.
Am J Hum Genet. 2013.
PMID: 23561846
Free PMC article.
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Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.
Rehman Su, Baig SM, Eiberg H, Rehman Su, Ahmad I, Malik NA, Tommerup N, Hansen L.
Rehman Su, et al.
Neurogenetics. 2011 Aug;12(3):247-51. doi: 10.1007/s10048-011-0286-5. Epub 2011 Jun 4.
Neurogenetics. 2011.
PMID: 21643797
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Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A.
Abou Jamra R, et al.
Eur J Hum Genet. 2011 Nov;19(11):1161-6. doi: 10.1038/ejhg.2011.98. Epub 2011 Jun 1.
Eur J Hum Genet. 2011.
PMID: 21629298
Free PMC article.
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