Introduction to Rare Genetic Disorders

Author:

Parthasarathy Amudha,Raju Muthuvel,Kulanthaivel Langeswaran,Subbaraj Gowtham Kumar

Publisher

Springer Nature Singapore

Reference106 articles.

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3. Al-Saud B, Al-Mousa H (1993–2022) ARPC1B deficiency. 2021 Sep 28. In: Adam MP, Ardinger HH, Pagon RA, et al. (eds) GeneReviews®. University of Washington, Seattle, WA. Available from: https://www.ncbi.nlm.nih.gov/books/NBK518710/

4. Al-Semari A, Wakil SM, Al-Muhaizea MA et al (2013) Novel FGD1 variant underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. Clin Dysmorphol 22:13–17

5. Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW (2017) The genetics and pathology of mitochondrial disease. J Pathol 241(2):236–250. https://doi.org/10.1002/path.4809. Epub 2016 Nov 22

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