Alacrima, Achalasia, and Mental Retardation Syndrome
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_546-1
Reference5 articles.
1. Benítez EO, Morales JJ, Muñoz LA et al (2018) A Novel GMPPA mutation in two adult sisters with achalasia, alacrima, short stature, dysmorphism, and intellectual disability. Mol Syndromol 9:110–114
2. Diaz J, Kane TD, Leon E (2020) Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. Am J Med Genet A 182:425–430. https://doi.org/10.1002/ajmg.a.61476
3. Franzka P, Henze H, Jung MJ et al (2021) GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation. J Clin Invest 131. https://doi.org/10.1172/JCI139076
4. Koehler K, Malik M, Mahmood S et al (2013) Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet 93:727–734. https://doi.org/10.1016/j.ajhg.2013.08.002
5. Oet MA, Brahma V, McGrath J, Galvin JA (2022) AAMR syndrome in a 22-month-old and literature review. Ophthalmic Genet 43:658–660. https://doi.org/10.1080/13816810.2022.2068046
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