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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Ramachandrappa, S, Kulkarni, A, Gandhi, H, Ellis, C, Hutt, R, Roberts, L, Hamid, R, Papageorghiou, A, Mansour, S
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	Springer Nature 2018

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