Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its Wolf-Hirschhorn associated DNA methylation episignature
H McConkey, A White-Brown, J Kerkhof… - Frontiers in Cell and …, 2022 - frontiersin.org
Wolf-Hirschhorn syndrome (WHS) is caused by deletion of a critical region of the short arm
of chromosome 4. Clinical features of WHS include distinct dysmorphic facial features …
of chromosome 4. Clinical features of WHS include distinct dysmorphic facial features …
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
P Zanoni, K Steindl, D Sengupta, P Joset, A Bahr… - Genetics in …, 2021 - nature.com
Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a
gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical …
gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical …
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype
Y Jiang, H Sun, Q Lin, Z Wang, G Wang, J Wang… - BMC medical …, 2019 - Springer
Abstract Background Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome
caused by partial 4p deletion highly variable in size in individual patients. The core WHS …
caused by partial 4p deletion highly variable in size in individual patients. The core WHS …
The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone …
X Hu, D Wu, Y Li, L Wei, X Li, M Qin, H Li, M Li… - BMC Medical …, 2020 - Springer
Abstract Background Wolf-Hirschhorn syndrome is a well-characterized genomic disorder
caused by 4p16. 3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial …
caused by 4p16. 3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial …
Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome
K Hara-Isono, K Matsubara, T Fuke, K Yamazawa… - Clinical …, 2020 - Springer
Abstract Background Imprinting disorders (IDs) show overlapping phenotypes, particularly in
Silver–Russell syndrome (SRS), Temple syndrome (TS14), and Prader–Willi syndrome …
Silver–Russell syndrome (SRS), Temple syndrome (TS14), and Prader–Willi syndrome …
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature
Abstract Background Wolf-Hirschhorn syndrome (WHS) is a well-defined disorder, whose
core phenotype encompasses growth restriction, facial gestalt, intellectual disability and …
core phenotype encompasses growth restriction, facial gestalt, intellectual disability and …
A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome
F Hannes, P Hammond, O Quarrell… - American journal of …, 2012 - Wiley Online Library
It is generally accepted that the facial phenotype of Wolf–Hirschhorn syndrome is caused by
deletions of either Wolf–Hirschhorn critical regions 1 or 2 (WHSCR 1–2). Here, we identify a …
deletions of either Wolf–Hirschhorn critical regions 1 or 2 (WHSCR 1–2). Here, we identify a …
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome
D Wu, C Gong, C Su - Science China Life sciences, 2017 - Springer
Abstract Silver-Russell Syndrome (SRS) is clinically heterogeneous disorder characterized
by low birth weight, postnatal growth restriction, and variable dysmorphic features. Current …
by low birth weight, postnatal growth restriction, and variable dysmorphic features. Current …
Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients
T Ji, C David, J Wang, WU Ye, LI Jie, X Jing… - Chinese medical …, 2010 - journals.lww.com
Background Wolf-Hirschhorn syndrome (WHS) results from the partial deletion of 4p. This
study aimed to identify and finemap the chromosome deletion regions of Chinese children …
study aimed to identify and finemap the chromosome deletion regions of Chinese children …
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann− Steiner syndrome
R Nardello, GD Mangano, A Fontana… - European journal of …, 2021 - Elsevier
Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder including developmental
delay/intellectual disability (DD/ID), hypertrichosis cubiti, short stature, and distinctive facial …
delay/intellectual disability (DD/ID), hypertrichosis cubiti, short stature, and distinctive facial …