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Chronic Catatonia in an Individual With a De Novo Missense SHANK1 Variant.
Am J Med Genet A. 2024 Nov 21:e63943. doi: 10.1002/ajmg.a.63943. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 39569511
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.
Vetrini F, et al. Among authors: lloyd holder j jr.
Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1.
Genome Med. 2019.
PMID: 30909959
Free PMC article.
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The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.
Weldon M, Kilinc M, Lloyd Holder J Jr, Rumbaugh G.
Weldon M, et al. Among authors: lloyd holder j jr.
J Neurodev Disord. 2018 Feb 5;10(1):6. doi: 10.1186/s11689-018-9225-1.
J Neurodev Disord. 2018.
PMID: 29402231
Free PMC article.
Review.
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