Characterization of a novel deep-intronic variant in
ambiguous genitalia, male
bilateral postaxial polydactyly
deformed rib cage
hydronephrosis
lethal skeletal dysplasia
patent foramen ovale
rhizomelic arm shortening
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
received:
21
10
2022
accepted:
21
11
2022
pubmed:
29
11
2022
medline:
31
12
2022
entrez:
28
11
2022
Statut:
epublish
Résumé
Biallelic pathogenic variants in
Identifiants
pubmed: 36442996
pii: mcs.a006254
doi: 10.1101/mcs.a006254
pmc: PMC9808550
pii:
doi:
Substances chimiques
Cytoplasmic Dyneins
EC 3.6.4.2
DYNC2H1 protein, human
0
RNA, Messenger
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2022 Buchh et al.; Published by Cold Spring Harbor Laboratory Press.
Références
BMC Genomics. 2012 May 20;13:194
pubmed: 22607156
J Hum Genet. 2021 Oct;66(10):995-1008
pubmed: 33875766
Eur J Hum Genet. 2017 Nov;25(11):1268-1272
pubmed: 28832562
Genome Med. 2022 Apr 5;14(1):38
pubmed: 35379322
Am J Hum Genet. 2020 Nov 5;107(5):942-952
pubmed: 33157007
Biochem Soc Trans. 2018 Aug 20;46(4):967-982
pubmed: 30065109
Am J Hum Genet. 2019 May 2;104(5):1007
pubmed: 31051109
J Perinatol. 2022 May;42(5):580-588
pubmed: 35181764
JAMA Netw Open. 2020 Jun 1;3(6):e205239
pubmed: 32556257
Mol Cell. 2012 Feb 10;45(3):314-29
pubmed: 22325350
Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74
pubmed: 22791528
J Clin Invest. 2021 Jan 4;131(1):
pubmed: 33001864
JAMA Pediatr. 2021 May 1;175(5):e205906
pubmed: 33587123
Am J Hum Genet. 2009 Apr;84(4):542-9
pubmed: 19361615
Cell. 1984 Jul;37(3):915-25
pubmed: 6204770
Eur J Hum Genet. 2021 Nov;29(11):1677-1689
pubmed: 34040173
Obstet Gynecol. 1988 Aug;72(2):181-4
pubmed: 3292975
Genet Med. 2020 May;22(5):927-936
pubmed: 31911672
Am J Hum Genet. 2019 Oct 3;105(4):719-733
pubmed: 31564432
Genet Med. 2009 Feb;11(2):127-33
pubmed: 19265753
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Mol Cell Biol. 2001 Mar;21(5):1509-14
pubmed: 11238888
JAMA. 2014 Nov 12;312(18):1880-7
pubmed: 25326637
Genet Med. 2020 Jun;22(6):986-1004
pubmed: 32203227
Am J Hum Genet. 2013 Nov 7;93(5):932-44
pubmed: 24183451
Eur J Hum Genet. 2018 May;26(5):644-651
pubmed: 29453417
J Med Genet. 2013 May;50(5):309-23
pubmed: 23456818
Am J Hum Genet. 2021 Jul 1;108(7):1231-1238
pubmed: 34089648
Am J Hum Genet. 2009 May;84(5):706-11
pubmed: 19442771