SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester
Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haplo...
| Hlavní autoři: | , , , , , , , , |
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| Médium: | Journal article |
| Jazyk: | English |
| Vydáno: |
Springer Nature
2018
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