New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters. (Record no. 1421840)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01430 a2200445 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250511183338.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199211s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0148-7299 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.1320430615 |
| 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 | Kaler, S G |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19921113 |
| 245 00 - TITLE STATEMENT | |
| Title | New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics |
| Date of publication, distribution, etc. | Aug 1992 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 983-8 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 | Bone Diseases, Metabolic |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ethnicity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hair |
| General subdivision | abnormalities |
| 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 | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osteogenesis Imperfecta |
| General subdivision | classification |
| 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 | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garrity, A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stern, H J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenbaum, K N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Orrison, B M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marini, J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernardini, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saal, H M |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics |
| Related parts | vol. 43 |
| -- | no. 6 |
| -- | p. 983-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.1320430615">https://doi.org/10.1002/ajmg.1320430615</a> |
| Public note | Available from publisher's website |
No items available.