| 000 | 01920 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515210701.0 | ||
| 264 | 0 | _c20100412 | |
| 008 | 201004s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.33208 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRodriguez, Jayson D | |
| 245 | 0 | 0 |
_aIntellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMar 2010 |
||
| 300 |
_a713-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, X _xgenetics |
| 650 | 0 | 4 |
_aCoenzyme A Ligases _xgenetics |
| 650 | 0 | 4 |
_aCollagen Type IV _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 |
_aLanguage Development Disorders _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aX-Linked Intellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aNephritis, Hereditary _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aLong-Chain-Fatty-Acid-CoA Ligase |
| 700 | 1 | _aBhat, Shambhu S | |
| 700 | 1 | _aMeloni, Ilaria | |
| 700 | 1 | _aLadd, Sydney | |
| 700 | 1 | _aLeslie, Nancy D | |
| 700 | 1 | _aDoyne, Emanuel O | |
| 700 | 1 | _aRenieri, Alessandra | |
| 700 | 1 | _aDupont, Barbara R | |
| 700 | 1 | _aStevenson, Roger E | |
| 700 | 1 | _aSchwartz, Charles E | |
| 700 | 1 | _aSrivastava, Anand K | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 152A _gno. 3 _gp. 713-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33208 _zAvailable from publisher's website |
| 999 |
_c19555051 _d19555051 |
||