Lenz-Majewski syndrome
Definition:
References:
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[1]. Mira Sohn, et al. Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4314-9. [Content Brief]
[2]. Parag M Tamhankar, et al. Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. Eur J Med Genet. 2015 Aug;58(8):392-9. [Content Brief]
[3]. R L Braham, et al. Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case. Oral Surg Oral Med Oral Pathol. 1969 Jan;27(1):20-6. [Content Brief]
[4]. Sérgio B Sousa, et al. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet. 2014 Jan;46(1):70-6. [Content Brief]
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