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 …
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 …
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 …
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 …
Myhre syndrome: clinical features and restrictive cardiopulmonary complications
LJ Starr, DK Grange, JW Delaney… - American Journal of …, 2015 - Wiley Online Library
Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint
movement, compact body habitus, and distinctive craniofacial and skeletal features, is …
movement, compact body habitus, and distinctive craniofacial and skeletal features, is …
Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome
AE Lin, C Michot, V Cormier‐Daire… - American journal of …, 2016 - Wiley Online Library
Myhre syndrome is a rare, distinctive syndrome due to specific gain‐of‐function mutations in
SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features …
SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features …
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 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 …
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 …
Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities
PW Hui, YK Mok, HM Luk, SLK Au, EYT Lau… - Prenatal …, 2023 - Wiley Online Library
Prenatal testing was performed in a 39‐year‐old Chinese pregnant woman referred for
increased nuchal translucency measuring 5.7 mm. Non‐invasive prenatal testing and SNP …
increased nuchal translucency measuring 5.7 mm. Non‐invasive prenatal testing and SNP …
相关搜索
- clinical features myhre syndrome
- pathogenic variants myhre syndrome
- smad4 gene myhre syndrome
- cardiac abnormalities myhre syndrome
- distinctive repertoire myhre syndrome
- fibroproliferative response myhre syndrome
- cardiovascular phenotypes myhre syndrome
- severe constipation myhre syndrome
- pathologic characteristics myhre syndrome
- tetralogy of fallot myhre syndrome
- chinese patients myhre syndrome
- prenatal diagnosis myhre syndrome
- natural history myhre syndrome
- phenotypic spectrum myhre syndrome