TY  - GEN
AU  - Whyte,Michael P
AU  - Blythe,Amanda
AU  - McAlister,William H
AU  - Nenninger,Angela R
AU  - Bijanki,Vinieth N
AU  - Mumm,Steven
TI  - Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1
SN  - 1523-4681
PY  - 2016///0108
KW  - Abnormalities, Multiple
KW  - diagnostic imaging
KW  - Amino Acid Sequence
KW  - Amino Acids
KW  - urine
KW  - Animals
KW  - Bone Diseases, Developmental
KW  - Bone and Bones
KW  - metabolism
KW  - Female
KW  - Homeostasis
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nitrogenous Group Transferases
KW  - chemistry
KW  - Phosphoserine
KW  - Radiography
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/jbmr.2398
ER  -