Syndromic disorder with short stature
Definition:
References:
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[1]. Angel Ashikov, et al. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. Hum Mol Genet. 2018 Sep 1;27(17):3029-3045. [Content Brief]
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[7]. Nadezda Maksimova, et al. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. J Med Genet. 2010 Aug;47(8):538-48. [Content Brief]
[8]. Paulien A Terhal, et al. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. Eur J Hum Genet. 2020 Jan;28(1):31-39. [Content Brief]
[9]. Ranad Shaheen, et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012 Aug 10;91(2):330-6. [Content Brief]
[10]. Tiong Yang Tan, et al. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet. 2017 Dec 7;101(6):985-994. [Content Brief]
[11]. Yuh-Charn Lin, et al. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. Am J Hum Genet. 2021 Jan 7;108(1):115-133. [Content Brief]
[12]. Zeynep Şıklar, et al. Syndromic disorders with short stature. J Clin Res Pediatr Endocrinol. 2014;6(1):1-8. [Content Brief]