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Items: 3

1.
A family of Melnick-Needles syndrome: a case report
Chi Hoon Oh, Chang Ho Lee, So Young Kim, So-Young Lee, Hak Hoon Jun, Soonchul Lee
BMC Pediatr. 2020; 20: 391. Published online 2020 Aug 19. doi: 10.1186/s12887-020-02288-2
PMCID:
PMC7436951
AbstractArticlePDF–947K
2.
A rare late progression form of Sly syndrome mucopolysaccharidosis
Nathalie Guffon, Roseline Froissart, Alain Fouilhoux
JIMD Rep. 2019 Sep; 49(1): 1–6. Published online 2019 Jul 29. doi: 10.1002/jmd2.12039
PMCID:
PMC6718110
AbstractArticlePDF–841K
3.
Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)
Ali Al Kaissi, Renata Pospischill, Franz Grill, Rudolf Ganger
J Clin Med Res. 2015 Dec; 7(12): 1002–1006. Published online 2015 Oct 23. doi: 10.14740/jocmr2341w
PMCID:
PMC4625807
AbstractArticlePDF–1.7M

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