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Ussama M. Makki on Muck Rack

Ussama M. Makki

As seen in: JAAD Case Reports
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H syndrome with low bone mineral density associated with hypovitaminosis D and low insulin-like growth factor 1

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By Khalil I. Al-Hamdi, Dooha Khaleel Ismael, Adel Gassab Mohammed, Ussama M. Makki
| JAAD Case Reports Verified
Key words genetic genodermatosis H syndrome hallux valgus SLC29A3 hyperpigmentation hypertrichosis Abbreviation used: BMD (bone mineral density), DXA (dual-energy x-ray absorptiometry) Introduction H syndrome is a rare autosomal recessive disorder that occurs because of mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter, which is a protein located in endosomes, lysosomes, and mitochondria. , 2 Bloom J.L. Lin C. Imundo L. et al.
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