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Year | Number of Results |
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1991 | 1 |
1999 | 1 |
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PubMed (cited) for id: 616866
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Page 1
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.
Am J Hum Genet. 2016.
PMID: 26924529
Free PMC article.
Spinal muscular atrophy with congenital fractures: postmortem analysis.
Van Toorn R, Davies J, Wilmshurst JM.
Van Toorn R, et al.
J Child Neurol. 2002 Sep;17(9):721-3. doi: 10.1177/088307380201700916.
J Child Neurol. 2002.
PMID: 12503655
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Severe spinal muscular atrophy variant associated with congenital bone fractures.
Felderhoff-Mueser U, Grohmann K, Harder A, Stadelmann C, Zerres K, Bührer C, Obladen M.
Felderhoff-Mueser U, et al.
J Child Neurol. 2002 Sep;17(9):718-21. doi: 10.1177/088307380201700915.
J Child Neurol. 2002.
PMID: 12503654
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Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance.
Courtens W, Johansson AB, Dachy B, Avni F, Telerman-Toppet N, Scheffer H.
Courtens W, et al.
J Med Genet. 2002 Jan;39(1):74-7. doi: 10.1136/jmg.39.1.74.
J Med Genet. 2002.
PMID: 11826032
Free PMC article.
No abstract available.
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Spinal muscular atrophy variant with congenital fractures.
Kelly TE, Amoroso K, Ferre M, Blanco J, Allinson P, Prior TW.
Kelly TE, et al.
Am J Med Genet. 1999 Nov 5;87(1):65-8. doi: 10.1002/(sici)1096-8628(19991105)87:1<65::aid-ajmg13>3.0.co;2-5.
Am J Med Genet. 1999.
PMID: 10528250
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Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.
Borochowitz Z, Glick B, Blazer S.
Borochowitz Z, et al.
J Med Genet. 1991 May;28(5):345-8. doi: 10.1136/jmg.28.5.345.
J Med Genet. 1991.
PMID: 1865475
Free PMC article.
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