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Paper Details

X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.
Bone
0
2023
3' untranslated region, 3'UTR variant, G, PHEX, UTR, UTR variant, X-linked hypophosphatemia, XLH, c, exon 13, exon 13-15 duplication, inherited rickets
Author NameAffiliation
Alan H BeggsManton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Pankaj B AgrawalManton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, University of Miami Miller School of Medicine and Holtz Children's Hospital
Casie A GenettiManton Center for Orphan Disease Research, Boston Children's Hospital
Catherine A BrownsteinManton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Catherine A BrownsteinManton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
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Datasets

Release 1.2