PMC Links for OMIM (Select 616866) - PMC - NCBI

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Items: 3

Select item 48000371.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Ellen Knierim, Hiromi Hirata, Nicole I. Wolf, Susanne Morales-Gonzalez, Gudrun Schottmann, Yu Tanaka, Sabine Rudnik-Schöneborn, Mickael Orgeur, Klaus Zerres, Stefanie Vogt, Anne van Riesen, Esther Gill, Franziska Seifert, Angelika Zwirner, Janbernd Kirschner, Hans Hilmar Goebel, Christoph Hübner, Sigmar Stricker, David Meierhofer, Werner Stenzel, Markus Schuelke

Am J Hum Genet. 2016 Mar 3; 98(3): 473–489. Published online 2016 Feb 25. doi: 10.1016/j.ajhg.2016.01.006

PMCID:: PMC4800037

Abstract Article PDF–5.9M

Select item 17349572.

Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

W Courtens, A Johansson, B Dachy, F Avni, N Telerman-Toppet, H Scheffer

J Med Genet. 2002 Jan; 39(1): 74–77. doi: 10.1136/jmg.39.1.74

PMCID:: PMC1734957

Summary PDF–179K

Select item 10168573.

Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.

Z Borochowitz, B Glick, S Blazer

J Med Genet. 1991 May; 28(5): 345–348. doi: 10.1136/jmg.28.5.345

PMCID:: PMC1016857

Summary Page Browse PDF–567K

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