Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Bibliográfalaš dieđut
Váldodahkkit:	Mehta, P, Mitchell, A, Tysoe, C, Caswell, R, Owens, M, Vincent, T
Materiálatiipa:	Journal article
Giella:	English
Almmustuhtton:	2012

Geahča maid

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De Novo Large Deletions in the <i>PHEX</i> Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
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