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Carpenter syndrome相关文献:
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C.
J Craniofac Surg. 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a.
PMID:19165041
Carpenter syndrome: a review for the craniofacial surgeon.
Kadakia S, Helman SN, Healy NJ, Saman M, Wood-Smith D.
J Craniofac Surg. 2014 Sep;25(5):1653-7. doi: 10.1097/SCS.0000000000001121.
PMID:25162549
Carpenter syndrome in a patient from Tanzania.
Lodhia J, Rego-Garcia I, Koipapi S, Sadiq A, Msuya D, Spaendonk RV, Hamel B, Dekker M.
Am J Med Genet A. 2021 Mar;185(3):986-989. doi: 10.1002/ajmg.a.62015. Epub 2020 Dec 24.
PMID:33368989
The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.
Sáenz SS, Arias B, Hosomichi K, Romero VI.
Hum Genomics. 2021 Aug 4;15(1):49. doi: 10.1186/s40246-021-00348-x.
PMID:34348791
Complex craniosynostosis in the context of Carpenter's syndrome.
Bouaré F, Noureldine MHA, Hajhouji F, Ghannane H, Jallo GI, Ait Benali S.
Childs Nerv Syst. 2022 Apr;38(4):831-835. doi: 10.1007/s00381-021-05288-4. Epub 2021 Jul 9.
PMID:34244844
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Khairat R, Elhossini R, Sobreira N, Wohler E, Otaify G, Mohamed AM, Abdel Raouf ER, Sayed I, Aglan M, Ismail S, Temtamy SA.
Eur J Med Genet. 2022 Jan;65(1):104377. doi: 10.1016/j.ejmg.2021.104377. Epub 2021 Nov 5.
PMID:34748996
The carpenter syndrome phenotype.
Tarhan E, Oğuz H, Safak MA, Samim E.
Int J Pediatr Otorhinolaryngol. 2004 Mar;68(3):353-7. doi: 10.1016/j.ijporl.2003.10.009.
PMID:15129947
New case of Cole-Carpenter syndrome.
Amor DJ, Savarirayan R, Schneider AS, Bankier A.
Am J Med Genet. 2000 Jun 5;92(4):273-7. doi: 10.1002/(sici)1096-8628(20000605)92:4<273::aid-ajmg10>3.0.co;2-t.
PMID:10842295
Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.
Chen S, Venkatesan A, Lin YQ, Xie J, Neely G, Banerjee S, Bhat MA.
J Neurosci. 2022 Sep 14;42(37):7016-7030. doi: 10.1523/JNEUROSCI.0442-22.2022. Epub 2022 Aug 9.
PMID:35944997
[Carpenter syndrome].
Kumagai K, Kurihara M.
Ryoikibetsu Shokogun Shirizu. 1996;(15):244-6.
PMID:9048001
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