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2.732 Aktuelle Fachpublikationen in American Journal of Medical Genetics Part A

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Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions

17.01.2018 | Chelsey J. F. Smith, Kenneth L. Jones, Diana L. Johnson, Gretchen Bandoli, Loan K. Robinson, Arthur Kavanaugh, Chris ..., American Journal of Medical Genetics Part A, 2018

The purpose of this study was to analyze the risk of maternal autoimmune disease or associated treatments on infantile hemangiomas (IHs), a common benign vascular tumor in infants, and to better understand how maternal chronic inflammation may play a factor in the pathogenesis of these lesions. ...

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Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions

17.01.2018 | Chelsey J. F. Smith, Kenneth L. Jones, Diana L. Johnson, Gretchen Bandoli, Loan K. Robinson, Arthur Kavanaugh, Chris ..., American Journal of Medical Genetics Part A, 2018

The purpose of this study was to analyze the risk of maternal autoimmune disease or associated treatments on infantile hemangiomas (IHs), a common benign vascular tumor in infants, and to better understand how maternal chronic inflammation may play a factor in the pathogenesis of these lesions. ...

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Phenotypic heterogeneity of ZMPSTE24 deficiency

17.01.2018 | Thomas A. Cassini, Amy K. Robertson, Anna G. Bican, Joy D. Cogan, Vickie L. Hannig, John H. Newman, Rizwan Hamid, Jo ..., American Journal of Medical Genetics Part A, 2018

A 4‐year‐old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman–Streiff syndrome. Her evaluation showed that she was mosaic for uniparental ...

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Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations

15.01.2018 | Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Khalsa, Bernard Chang, Christopher A. Walsh, American Journal of Medical Genetics Part A, 2018

The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss‐of‐function (LOF) X‐linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed ...

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Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia

13.01.2018 | Nasir A. Bakshi, Talal Al‐Anzi, Said Y. Mohamed, Zuhair Rahbeeni, Moeen AlSayed, Mohammed Al‐Owain, Raashda A. Sulaiman, American Journal of Medical Genetics Part A, 2018

Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We ...

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Genetic diagnosis of Down syndrome in an underserved community

26.12.2017 | Andrew K. Sobering, Joshua B. Stevens, Janice L. Smith, Beverly Nelson, Tyhiesia Donald, Sarah H. Elsea, American Journal of Medical Genetics Part A, 2017

It is a matter of course that in high‐income countries, infants born with features suggestive of Down syndrome (DS) are offered genetic testing for confirmation of a clinical diagnosis. Benefits of a definitive diagnosis include an end to the diagnostic odyssey, informed prognosis, ...

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Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies

23.12.2017 | Atif A. Ahmed, Priya Skaria, Nicole P. Safina, Isabelle Thiffault, Alex Kats, Eugenio Taboada, Sultan Habeebu, Carol ..., American Journal of Medical Genetics Part A, 2017

Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. ...

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Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X

22.12.2017 | Ashish R. Deshwar, Lucie Dupuis, Carsten Bergmann, James Stavropoulos, Roberto Mendoza‐Londono, American Journal of Medical Genetics Part A, 2017

Mesomelic and rhizo‐mesomelic dysplasias are a group of disorders characterized by abnormal shortening of the limbs. One of the most common causes of mesomelic shortening is the loss of the transcription factor SHOX. In this clinical report, we present a patient who in addition to mesomelic ...

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Elsahy–Waters syndrome is caused by biallelic mutations in CDH11

22.12.2017 | Frederike L. Harms, Sheela Nampoothiri, Shams Anazi, Dhanya Yesodharan, Malik Alawi, Kerstin Kutsche, Fowzan S. Alkuraya, American Journal of Medical Genetics Part A, 2017

Elsahy–Waters syndrome (EWS), also known as branchial–skeletal–genital syndrome, is a distinct dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual disability, and hypospadias. We ...

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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

22.12.2017 | Naseebullah Kakar, Denise Horn, Eva Decker, Nadine Sowada, Christian Kubisch, Jamil Ahmad, Guntram Borck, Carsten Be ..., American Journal of Medical Genetics Part A, 2017

Ciliopathies are disorders of the primary cilium that can affect almost all organs and that are characterized by pleiotropy and extensive intra‐ and interfamilial phenotypic variability. Accordingly, mutations in the same gene can cause different ciliopathy phenotypes of varying severity. WDR60 ...

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