Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia.
Craniometaphyseal dysplasia
Hypophosphatemia
Rickets
Journal
Bone reports
ISSN: 2352-1872
Titre abrégé: Bone Rep
Pays: United States
ID NLM: 101646176
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
18
07
2023
revised:
08
08
2023
accepted:
16
08
2023
medline:
1
9
2023
pubmed:
1
9
2023
entrez:
1
9
2023
Statut:
epublish
Résumé
Craniometaphyseal dysplasia (CMD) is an infrequently occurring skeletal dysplasia often caused by a mutation in
Identifiants
pubmed: 37654679
doi: 10.1016/j.bonr.2023.101707
pii: S2352-1872(23)00055-4
pmc: PMC10466911
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101707Informations de copyright
© 2023 The Author(s).
Déclaration de conflit d'intérêts
The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: D. Braddock reports a relationship with Inozyme Pharma that includes: consulting or advisory, equity or stocks, and funding grants. T. Carpenter reports a relationship with Inozyme Pharma that includes: consulting or advisory.
Références
Acta Med Okayama. 2013;67(6):385-9
pubmed: 24356723
J Negat Results Biomed. 2016 Oct 26;15(1):18
pubmed: 27784318
Clin Biochem. 2023 Aug;118:110582
pubmed: 37187224
Clin Chim Acta. 2016 May 1;456:122-127
pubmed: 26820766
J Bone Miner Res. 2022 May;37(5):1024-1031
pubmed: 35147247
Hum Mol Genet. 2016 Sep 1;25(17):3836-3848
pubmed: 27466194
J Pediatr. 1988 Apr;112(4):587-91
pubmed: 3351685
World J Clin Cases. 2021 Mar 16;9(8):1853-1862
pubmed: 33748234
J Laryngol Otol. 1996 Apr;110(4):328-38
pubmed: 8733453
Pediatr Nephrol. 1994 Oct;8(5):645
pubmed: 7819020
J Pediatr. 1988 Apr;112(4):583-7
pubmed: 3351684
Eur J Pediatr Surg. 2008 Jun;18(3):198-201
pubmed: 18493899
Clin Genet. 2012 Jan;81(1):93-5
pubmed: 22150416
J Bone Miner Res. 2009 Jul;24(7):1206-15
pubmed: 19257826
J Bone Miner Res. 2020 Oct;35(10):2070-2081
pubmed: 33463757
J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-3123
pubmed: 28655174
J Perinatol. 1997 May-Jun;17(3):241-3
pubmed: 9210083
Sci Rep. 2018 Oct 24;8(1):15710
pubmed: 30356088
Indian J Pediatr. 2011 Aug;78(8):1010-2
pubmed: 21328078
Stem Cell Reports. 2017 Nov 14;9(5):1369-1376
pubmed: 29056330
Int J Pediatr Otorhinolaryngol. 2003 Jan;67(1):71-7
pubmed: 12560153
Nephron. 1986;44(2):125-8
pubmed: 3774075
J Clin Invest. 1993 Jan;91(1):362-7
pubmed: 7678608
Sci Rep. 2020 May 4;10(1):7408
pubmed: 32366894
Cells Tissues Organs. 2009;189(1-4):158-62
pubmed: 18728347
Hum Mol Genet. 2011 Mar 1;20(5):948-61
pubmed: 21149338