GTPTS
KAT6B
SBBYSS
de novo variant
short stature
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2020
2020
Historique:
received:
25
06
2019
accepted:
06
03
2020
entrez:
12
5
2020
pubmed:
12
5
2020
medline:
12
5
2020
Statut:
epublish
Résumé
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically overlapping syndromes caused by truncating sequence variants in the
Identifiants
pubmed: 32391291
doi: 10.3389/fped.2020.00124
pmc: PMC7190791
doi:
Types de publication
Case Reports
Langues
eng
Pagination
124Informations de copyright
Copyright © 2020 Zhu, Lv, Wu and Shao.
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