Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. (Record no. 28139225)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01723 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517203417.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201910s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1399-0004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/cge.13211 |
| 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 | Bruel, A-L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20191024 |
| 245 00 - TITLE STATEMENT | |
| Title | Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | 07 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 182-184 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Coloboma |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Facies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hedgehog Proteins |
| 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 | Intellectual Disability |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| General subdivision | diagnosis |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thevenon, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jean-Marcais, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odent, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dubourg, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehalle, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tran Mau-Them, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Philippe, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moutton, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houcinat, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gay, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guibaud, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duffourd, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivière, J-B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 94 |
| -- | no. 1 |
| -- | p. 182-184 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.13211">https://doi.org/10.1111/cge.13211</a> |
| Public note | Available from publisher's website |
No items available.