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  • Goltz Syndrome - NFED
    Goltz syndrome is a rare genetic condition characterized by involvement of the skin, skeletal system, eyes, and face Skin manifestations present at birth include thin skin and areas of missing skin; fat nodules in skin manifesting as soft, yellow-pink nodules; and pigmentary changes
  • Focal dermal hypoplasia (Goltz syndrome)
    Focal dermal hypoplasia is a genetically inherited disorder that can affect the development of many different organ systems and was first described by Goltz in 1962 It presents with characteristic abnormalities of the skin, eyes and teeth and may also have effects on the skeletal, gastrointestinal, genitourinary , neurological and
  • UpToDate
    Comprehensive information on focal dermal hypoplasia (Goltz syndrome), including clinical features, diagnosis, and management
  • Focal dermal hypoplasia - Wikipedia
    Focal dermal hypoplasia is a form of ectodermal dysplasia [1] It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth These defects manifest as yellow-pink bumps on the skin and pigmentation changes [2]
  • Gorlin-Goltz syndrome - PMC
    Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities
  • Goltz Syndrome - Baylor College of Medicine
    Goltz Syndrome, also known as Goltz-Gorlin Syndrome or Focal Dermal Hypoplasia, is characterized by patchy areas of dermal hypoplasia with deposition of subcutaneous fat into the dermis Additional ectodermal features such as changes in the nail, skin, and hair are usually observed
  • Goltz Syndrome: Symptoms, Causes And Treatment - Medicover Hospitals
    Goltz syndrome, also known as Focal Dermal Hypoplasia (FDH), is a rare genetic disorder that affects various parts of the body This condition can lead to a wide range of abnormalities and can impact the skin, skeleton, eyes, and other organs
  • Goltz syndrome - Encyclopedia. com
    Goltz syndrome, also known as focal dermal hypoplasia or Goltz-Gorlin syndrome, is a rare form of an abnormal skin condition that is believed to be a dominant, X-linked trait It is named after R W Goltz, who first described this syndrome in 1962
  • Goltz syndrome in males: A clinical report of a male patient carrying a . . .
    Goltz syndrome (GS), also known as Focal dermal hypoplasia (OMIM #305600), is a rare X‐linked dominant syndrome with variable meso‐ectodermal abnormalities 1 Common clinical findings concern the skin (patchy skin aplasia, subcutaneous fat herniation, papilloma, telangiectasia, sparse hair, syndactyly, dysplastic nails, linear hypo‐ hyperpigment
  • Goltz Syndrome and PORCN Mosaicism - PMC - PubMed Central (PMC)
    Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent dysplastic teeth, and skeletal anomalies
  • Gorlin-Goltz syndrome - EyeWiki
    Gorlin and Goltz’s eponymous syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disorder distinguished by multisystemic developmental abnormalities secondary to mutations in the patched-1 (PTCH1) gene
  • Focal dermal hypoplasia (Goltz syndrome) - UpToDate
    Focal dermal hypoplasia (FDH; MIM #305600), also known as Goltz syndrome or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder that is lethal in utero in males [1] The primary feature of FDH is patchy dermal hypoplasia, with herniation of fat through defects in the dermis
  • Gorlin-Goltz syndrome – a medical condition requiring a . . .
    Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness It is inherited in a dominant autosomal way The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar
  • Gorlin-Goltz syndrome - PMC
    Gorlin-Goltz syndrome is an autosomal dominant disorder with a high penetrance and variable expressivity It is caused by mutations in the patched tumor suppressor gene (PTCH), a human homologue of the Drosophila gene mapped to chromosome 9q21-23
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