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 …
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 …
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 …
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 …
Autism spectrum disorder and psychiatric comorbidity in a patient with Myhre syndrome
Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or
without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 …
without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 …
Natural history of Myhre syndrome
DD Yang, M Rio, C Michot, N Boddaert… - Orphanet Journal of …, 2022 - Springer
Background Myhre syndrome (MS) is a rare genetic disease characterized by skeletal
disorders, facial features and joint limitation, caused by a gain of function mutation in …
disorders, facial features and joint limitation, caused by a gain of function mutation in …
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 …
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 …