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Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
Journal:
Rheumatology (Oxford, England)
Published:
April 28, 2012
Authors
Puja Mehta
,
Adam Mitchell
,
Carolyn Tysoe
,
Richard Caswell
,
Martina Owens
,
Tonia Vincent
Relevant Conditions
Hypophosphatemia
,
Rickets
,
X-Linked Hypophosphatemia
,
Malnutrition
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