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Case Reports
. 2022 Oct 1;31(4):185-190.
doi: 10.1097/MCD.0000000000000427. Epub 2022 Jul 14.

A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant

Giulia Parmeggiani  1 , Francesca Gualandi  2 , Marco Limarzi  3 , Alessandra Ferlini  2 , Davide Brotto  4 , Alessandro Martini  4 , Alberto Sensi  1
Affiliations
Case Reports

A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant

Giulia Parmeggiani et al. Clin Dysmorphol. .
No abstract available

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References

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    1. Beck HN, Drahushuk K, Jacoby DB, Higgins D, Lein PJ (2001). Bone morphogenetic protein-5 (BMP-5) promotes dendritic growth in cultured sympathetic neurons. BMC Neurosci 2:12.
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    1. Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, et al. (2002). Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Am J Hum Genet 71:618–624.
    1. Brunet LJ, McMahon JA, McMahon AP, Harland RM (1998). Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science 280:1455–1457.

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