A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. (Record no. 29046957)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01742 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518010053.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202003s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.23686 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Youssefian, Leila |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200309 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 02 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 217-229 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Connexin 26 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Connexins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss, Bilateral |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss, Sensorineural |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ichthyosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Keratoderma, Palmoplantar |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metalloendopeptidases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oocytes |
| General subdivision | growth & development |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Xenopus |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vahidnezhad, Hassan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saeidian, Amir Hossein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mahmoudi, Hamidreza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karamzadeh, Razieh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kariminejad, Ariana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huang, Jianhe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Leping |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jannace, Thomas F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fortina, Paolo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeinali, Sirous |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | White, Thomas W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uitto, Jouni |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 40 |
| -- | no. 2 |
| -- | p. 217-229 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23686">https://doi.org/10.1002/humu.23686</a> |
| Public note | Available from publisher's website |
No items available.