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Mobius syndrome-axonal neuropathy-hypogonadotropic hypogonadism相关文献:
The syndrome of Mobius sequence, peripheral neuropathy, and hypogonadotropic hypogonadism.
Kawai M, Momoi T, Fujii T, Nakano S, Itagaki Y, Mikawa H.
Am J Med Genet. 1990 Dec;37(4):578-82. doi: 10.1002/ajmg.1320370432.
PMID:2260611
Moebius-Poland syndrome and hypogonadotropic hypogonadism.
López de Lara D, Cruz-Rojo J, Sánchez del Pozo J, Gallego Gómez ME, Lledó Valera G.
Eur J Pediatr. 2008 Mar;167(3):353-4. doi: 10.1007/s00431-007-0473-4. Epub 2007 Mar 31.
PMID:17401577
Complication begets clarification in classification.
Barkovich J.
Brain. 2013 Feb;136(Pt 2):368-73. doi: 10.1093/brain/awt001.
PMID:23413256
Mobius syndrome associated with obesity and precocious puberty.
De Silva SR, Painter SL, Hildebrand D.
BMJ Case Rep. 2018 Dec 7;11(1):e219590. doi: 10.1136/bcr-2017-219590.
PMID:30567196
Moebius sequence and hypogonadotrophic hypogonadism.
Jennings JE, Costigan C, Reardon W.
Am J Med Genet A. 2003 Nov 15;123A(1):107-10. doi: 10.1002/ajmg.a.20500.
PMID:14556256
TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome.
Nakamura Y, Matsumoto H, Zaha K, Uematsu K, Nonoyama S.
Brain Dev. 2018 Mar;40(3):233-237. doi: 10.1016/j.braindev.2017.12.006. Epub 2017 Dec 27.
PMID:29289389
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC.
Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.
PMID:23378218
A case of Moebius syndrome in association with Klinefelter syndrome.
Yeh PC, Kipp MA.
Ophthalmic Genet. 2002 Sep;23(3):185-9. doi: 10.1076/opge.23.3.185.7884.
PMID:12324877
The natural history of Mobius syndrome in a 32-year-old man.
Chorąży M, Leśniewicz R, Posmyk R, Halicka D, Zalewska A, Wincewicz-Pietrzykowska A, Chorąży K, Drozdowski W.
Neurol Neurochir Pol. 2011 Jan-Feb;45(1):74-9. doi: 10.1016/s0028-3843(14)60063-3.
PMID:21384297
Mobius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers.
Criado GR, Aytés AP.
Am J Med Genet. 1999 Oct 29;86(5):492-6. doi: 10.1002/(sici)1096-8628(19991029)86:5<492::aid-ajmg17>3.0.co;2-e.
PMID:10508994
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