Variants in DOK7 results in fetal akinesia deformation sequence : A case report and review of literature
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd..
We report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:105 |
|---|---|
| Enthalten in: |
Clinical genetics - 105(2024), 2 vom: 15. Feb., Seite 226-227 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Tiwari, Amit K [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Akinesia |
|---|
| Anmerkungen: |
Date Completed 08.01.2024 Date Revised 09.04.2024 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1111/cge.14431 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM36341925X |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM36341925X | ||
| 003 | DE-627 | ||
| 005 | 20240409232209.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1111/cge.14431 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1370.xml |
| 035 | |a (DE-627)NLM36341925X | ||
| 035 | |a (NLM)37849383 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Tiwari, Amit K |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Variants in DOK7 results in fetal akinesia deformation sequence |b A case report and review of literature |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 08.01.2024 | ||
| 500 | |a Date Revised 09.04.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. | ||
| 520 | |a We report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation | ||
| 650 | 4 | |a Review | |
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a DOK7 | |
| 650 | 4 | |a FADS | |
| 650 | 4 | |a MuSK | |
| 650 | 4 | |a akinesia | |
| 650 | 4 | |a congenital myasthenic syndrome | |
| 650 | 4 | |a contractures | |
| 650 | 7 | |a DOK7 protein, human |2 NLM | |
| 650 | 7 | |a Muscle Proteins |2 NLM | |
| 700 | 1 | |a Srinivasan, Varunvenkat M |e verfasserin |4 aut | |
| 700 | 1 | |a Phadke, Shubha R |e verfasserin |4 aut | |
| 700 | 1 | |a Saxena, Deepti |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Clinical genetics |d 1971 |g 105(2024), 2 vom: 15. Feb., Seite 226-227 |w (DE-627)NLM00004914X |x 1399-0004 |7 nnns |
| 773 | 1 | 8 | |g volume:105 |g year:2024 |g number:2 |g day:15 |g month:02 |g pages:226-227 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1111/cge.14431 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 105 |j 2024 |e 2 |b 15 |c 02 |h 226-227 | ||