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otopalatodigital syndrome相关文献:
Otopalatodigital syndrome type I: New temporal bone CT-scan sign in a case with a de novo novel mutation.
Martínez-López M, Navedo A, López De Mesa R, Cervera-Paz FJ.
Acta Otorrinolaringol Esp (Engl Ed). 2019 Sep-Oct;70(5):306-309. doi: 10.1016/j.otorri.2018.05.003. Epub 2018 Aug 4.
PMID:30086887
X-Linked Otopalatodigital Spectrum Disorders.
Robertson S.
2005 Nov 30 [updated 2019 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301567
Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings.
Joksic I, Cuturilo G, Jurisic A, Djuricic S, Peterlin B, Mijovic M, Karadzov ON, Egic A, Milovanovic Z.
Balkan J Med Genet. 2019 Dec 21;22(2):83-88. doi: 10.2478/bjmg-2019-0024. eCollection 2019 Dec.
PMID:31942422
Retinal folds and tracheomalacia in a boy with otopalatodigital syndrome type 2.
Okuno T, Igarashi A, Sugihara Y, Imoto Y, Ohshima Y.
Pediatr Int. 2022 Jan;64(1):e15127. doi: 10.1111/ped.15127.
PMID:35396784
Otopalatodigital syndrome type II.
Holder SE, Winter RM.
J Med Genet. 1993 Apr;30(4):310-3. doi: 10.1136/jmg.30.4.310.
PMID:8487277
Otopalatodigital syndrome.
Takato T, Fukuda O, Oda M.
Ann Plast Surg. 1985 Apr;14(4):371-4. doi: 10.1097/00000637-198504000-00011.
PMID:3994281
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
Robertson SP.
Eur J Hum Genet. 2007 Jan;15(1):3-9. doi: 10.1038/sj.ejhg.5201654. Epub 2006 Aug 23.
PMID:16926860
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E.
Am J Med Genet. 2000 Feb 28;90(5):407-22. doi: 10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d.
PMID:10706363
Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation.
Sankararaman S, Kurepa D, Shen Y, Kakkilaya V, Ursin S, Chen H.
J Pediatr Genet. 2013 Mar;2(1):33-6. doi: 10.3233/PGE-13045.
PMID:27625837
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.
Robertson SP, Walsh S, Oldridge M, Gunn T, Becroft D, Wilkie AO.
Am J Hum Genet. 2001 Jul;69(1):223-7. doi: 10.1086/321280. Epub 2001 Jun 6.
PMID:11398100
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