SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester

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...

書誌詳細
主要な著者:	Ramachandrappa, S, Kulkarni, A, Gandhi, H, Ellis, C, Hutt, R, Roberts, L, Hamid, R, Papageorghiou, A, Mansour, S
フォーマット:	Journal article
言語:	English
出版事項:	Springer Nature 2018

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