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Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.
Mol Genet Genomic Med. 2019 Nov;7(11):e969. doi: 10.1002/mgg3.969. Epub 2019 Sep 7.
Mol Genet Genomic Med. 2019.
PMID: 31493347
Free PMC article.
Retrospective Study of Obesity in Children with Down Syndrome.
Basil JS, Santoro SL, Martin LJ, Healy KW, Chini BA, Saal HM.
Basil JS, et al.
J Pediatr. 2016 Jun;173:143-8. doi: 10.1016/j.jpeds.2016.02.046. Epub 2016 Mar 14.
J Pediatr. 2016.
PMID: 26987801
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Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes.
Vanderwal A, Lewis J, Basil J, Atzinger C, Widmeyer K.
Vanderwal A, et al.
J Genet Couns. 2023 Jun;32(3):674-684. doi: 10.1002/jgc4.1674. Epub 2023 Jan 15.
J Genet Couns. 2023.
PMID: 36642783
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