Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. (Record no. 22655951)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01695 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516143831.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201502s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2013.56 |
| 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 | Corsini, Carole |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150212 |
| 245 00 - TITLE STATEMENT | |
| Title | Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Jan 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 136-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | genetics |
| 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 | DNA-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fingers |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Counseling |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hair Diseases |
| 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 | Langer-Giedion Syndrome |
| General subdivision | genetics |
| 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 | Mosaicism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nose |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Repressor Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gencik, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willems, Marjolaine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Decker, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanchez, Elodie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puechberty, Jacques |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schneider, Anouck |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Girard, Manon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Edery, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bretonnes, Patricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cottalorda, Jérôme |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefort, Geneviève |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jeandel, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarda, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Genevieve, David |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 22 |
| -- | no. 1 |
| -- | p. 136-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2013.56">https://doi.org/10.1038/ejhg.2013.56</a> |
| Public note | Available from publisher's website |
No items available.