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

Abstract:

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 haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41431-017-0080-4

Authors


Publisher:
Springer Nature
Journal:
European Journal of Human Genetics More from this journal
Volume:
26
Pages:
350–358
Publication date:
2018-01-12
Acceptance date:
2017-10-24
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
Pmid:
29330548
Language:
English
Pubs id:
pubs:821070
UUID:
uuid:e6ed256d-7e80-404b-a442-e9b11ab6eb08
Local pid:
pubs:821070
Source identifiers:
821070
Deposit date:
2018-02-25

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