A second family with Myhre syndrome caused by the same recurrent SMAD4 pathogenic variation (p. Arg496Cys)
Ş Demir, C Alavanda, G Yeşil, AD Aslanger… - Molecular …, 2023 - karger.com
Abstract Introduction: Myhre syndrome (MS; OMIM# 139210) is a rare connective tissue
disorder presenting with cardiovascular, respiratory, gastrointestinal, and skeletal system …
disorder presenting with cardiovascular, respiratory, gastrointestinal, and skeletal system …
Myhre syndrome: a first familial recurrence and broadening of the phenotypic spectrum
I Meerschaut, A Beyens, W Steyaert… - American Journal of …, 2019 - Wiley Online Library
Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short
stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities …
stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities …
Myhre syndrome: a report of six Chinese patients and literature review
KPT Yu, HM Luk, BHY Chung, IFM Lo - Clinical Dysmorphology, 2019 - journals.lww.com
Myhre syndrome is a clinically distinct syndrome with multiple system involvement. It was
first described in 1981 by Myhre et al.(1981) in two unrelated patients. The condition was …
first described in 1981 by Myhre et al.(1981) in two unrelated patients. The condition was …
Novel SMAD4 mutation causing Myhre syndrome
V Caputo, G Bocchinfuso, M Castori… - American Journal of …, 2014 - Wiley Online Library
Myhre syndrome (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized
by developmental and growth delay, athletic muscular built, variable cognitive deficits …
by developmental and growth delay, athletic muscular built, variable cognitive deficits …
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity
H Li, B Cheng, X Hu, C Li, J Su, S Zhang, L Li, M Li… - Clinica Chimica …, 2020 - Elsevier
Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth
retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism …
retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism …
Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome
Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two
specific heterozygous gain‐of‐function pathogenic variants in SMAD4. The phenotype …
specific heterozygous gain‐of‐function pathogenic variants in SMAD4. The phenotype …
[HTML][HTML] First documented case of Myhre syndrome in Romania: A case report
A Cătană, R Simonescu-Colan… - Experimental and …, 2022 - spandidos-publications.com
Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder,
characterized by developmental delay, characteristic facial features, various bone and joint …
characterized by developmental delay, characteristic facial features, various bone and joint …
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
E Vanbelleghem, T Van Damme, A Beyens… - European Journal of …, 2024 - nature.com
Abstract Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by
recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly …
recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly …
Recurrent pericarditis in Myhre syndrome
P Picco, A Naselli, G Pala, A Marsciani… - American Journal of …, 2013 - Wiley Online Library
Myhre syndrome is a rare disorder characterized by pre‐and postnatal short stature,
brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia …
brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia …
Severe constipation in a patient with Myhre syndrome: a case report
JK Bassett, S Douzgou, B Kerr - Clinical Dysmorphology, 2016 - journals.lww.com
Myhre syndrome is a rare autosomal dominant genetic condition characterized by short
stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal …
stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal …