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 …
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 …
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 …
Second female case of Myhre syndrome
MG Lopez-Cardona, D Garcia-Cruz… - Clinical …, 2004 - journals.lww.com
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental
retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism) …
retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism) …
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 …
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 …
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 …
Natural history and life-threatening complications in Myhre syndrome and review of the literature
L Garavelli, I Maini, F Baccilieri, I Ivanovski… - European journal of …, 2016 - Springer
Myhre syndrome (OMIM 139210) is a rare developmental disorder inherited as an
autosomal dominant trait and caused by a narrow spectrum of missense mutations in the …
autosomal dominant trait and caused by a narrow spectrum of missense mutations in the …
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4
K Yang, X Wang, WQ Wang, MY Han… - … Genetics & Genomic …, 2023 - Wiley Online Library
Background Myhre syndrome is a rare multisystem genetic disorder that is caused by de
novo heterozygous gain‐of‐function variants in SMAD4. Patients with Myhre syndrome …
novo heterozygous gain‐of‐function variants in SMAD4. Patients with Myhre syndrome …