Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1. [electronic resource]
Producer: 20160108Description: 606-14 p. digitalISSN:- 1523-4681
- Abnormalities, Multiple -- diagnostic imaging
- Amino Acid Sequence
- Amino Acids -- urine
- Animals
- Bone Diseases, Developmental -- diagnostic imaging
- Bone and Bones -- metabolism
- Female
- Homeostasis
- Humans
- Infant
- Intellectual Disability -- diagnostic imaging
- Molecular Sequence Data
- Mutation
- Nitrogenous Group Transferases -- chemistry
- Phosphoserine -- urine
- Radiography
- Sequence Homology, Amino Acid
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Publication Type: Case Reports; Journal Article
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