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brachydactyly,brachydactylia相关文献:
Brachydactyly.
Temtamy SA, Aglan MS.
Orphanet J Rare Dis. 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15.
PMID:18554391
Symbrachydactyly.
Goodell PB, Bauer AS, Sierra FJ, James MA.
Hand (N Y). 2016 Sep;11(3):262-270. doi: 10.1177/1558944715614857. Epub 2016 Sep 1.
PMID:27698626
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R.
Genes (Basel). 2023 Feb 11;14(2):465. doi: 10.3390/genes14020465.
PMID:36833393
Trichorhinophalangeal syndrome.
Vargas Lebrón C, Ruiz Montesino MD, Moreira Navarrete V, Aróstegui Gorospe JI.
Reumatol Clin (Engl Ed). 2020 Nov-Dec;16(6):499-501. doi: 10.1016/j.reuma.2018.08.015. Epub 2018 Dec 3.
PMID:30522940
Brachydactyly.
Chen VT.
Hand. 1978 Jun;10(2):191-201. doi: 10.1016/s0072-968x(78)80013-8.
PMID:711003
A human embryonic limb cell atlas resolved in space and time.
Zhang B, He P, Lawrence JEG, Wang S, Tuck E, Williams BA, Roberts K, Kleshchevnikov V, Mamanova L, Bolt L, Polanski K, Li T, Elmentaite R, Fasouli ES, Prete M, He X, Yayon N, Fu Y, Yang H, Liang C, Zhang H, Blain R, Chedotal A, FitzPatrick DR, Firth H, Dean A, Bayraktar OA, Marioni JC, Barker RA, Storer MA, Wold BJ, Zhang H, Teichmann SA.
Nature. 2024 Nov;635(8039):668-678. doi: 10.1038/s41586-023-06806-x. Epub 2023 Dec 6.
PMID:38057666
[Brachydactylia].
SCHARIZER E.
Fortschr Geb Rontgenstr. 1955 Aug;83(2):241-3.
PMID:13277595
ASAH1-Related Disorders.
Dyment DA, Bennett SAL, Medin JA, Levade T.
2018 Mar 29. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:29595935
A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4.
Takeyari S, Yamamoto K, Fujiwara M, Ohata Y, Kitaoka T, Kubota T, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Ozono K.
Clin Pediatr Endocrinol. 2023;32(2):105-109. doi: 10.1297/cpe.2022-0076. Epub 2023 Feb 10.
PMID:37020696
Genotype-Phenotype Correlation of Distal 2q37 Deletions.
Iwata-Otsubo A, Darr KR, Torres-Martinez W, Hodge JC.
Cytogenet Genome Res. 2022;162(5):237-243. doi: 10.1159/000526660. Epub 2022 Dec 14.
PMID:36516793
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