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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the gene for which was mapped to chromosome 12 two years ago. We have now identified a gene for this disorderExpand
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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth delay and limb reduction defects. We indentified andExpand
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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, leads to chronic renal failure in children. The genes mutated in NPHP1 and NPHP4 have been identified, and a gene locusExpand
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Human Molecular Genetics 2
Human molecular genetics 3 , Human molecular genetics 3 , مرکز فناوری اطلاعات و اطلاع رسانی کشاورزی
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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal musculature, with evidence for at least threeExpand
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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb,Expand
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The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
Turner syndrome is characterized by short stature and is frequently associated with a variable spectrum of somatic features including ovarian failure, heart and renal abnormalities, micrognathia,Expand
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Downregulation of NANOG Induces Differentiation of Human Embryonic Stem Cells to Extraembryonic Lineages
The homeobox transcription factor Nanog has been proposed to play a crucial role in the maintenance of the undifferentiated state of murine embryonic stem cells. A human counterpart, NANOG, has beenExpand
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SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development
SRY, SOX9, and DAX1 are key genes in human sex determination, by virtue of their associated male-to-female sex reversal phenotypes when mutated (SRY, SOX9) or over-expressed (DAX1). During human sexExpand
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Keratin 16 and keratin 17 mutations cause pachyonychia congenita
Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson–Lawler PC was recently mapped to the typeExpand
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