A NEW AUTOSOMAL DOMINANT NEUROECTODERMAL SYNDROME

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Autosomal dominant burning feet syndrome.

Familial burning feet syndrome inherited as an autosomal dominant trait has been described in only one family. Due to an associated sensory neuropathy the autosomal dominant burning feet syndrome was suggested to represent a variant form of hereditary sensory and autonomic neuropathy type I (HSAN I). Clinical, histopathological, and molecular genetic studies were performed in a large German kin...

متن کامل

Autosomal dominant hyper-IgE syndrome

Th e hyper-IgE recurrent infection syndromes (HIES) comprise a group of primary immunodefi ciency dis orders that exhibit markedly elevated IgE levels, recur rent staphylococcal skin abscesses, eczema and pulmonary infections. Both autosomal dominant and autosomal recessive forms of the disorder have been described. Most autosomal dominant HIES (AD-HIES) have been found to be due to mutations i...

متن کامل

a large multigeneration iranian family with autosomal dominant larsen syndrome

larsen syndrome is a skeletal dysplasia (osteochondro-dysplasia) in which multiple dislocations of the large joints are the major feature . nosology in this group of disease, which constitutes 8% of mendelian disorders in man, is primarily based on clinical and radiological features. the underlying genetic defect is 3p21.1-p14.1 in the dominant type

متن کامل

A new form of autosomal dominant arthrogryposis.

We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.

متن کامل

Homozygosity for autosomal dominant Marfan syndrome.

Marfan syndrome is an autosomal dominant condition with varying phenotypic manifestations. Affected persons are usually heterozygotes. A family is presented in which the gene for this syndrome is segregating in a large number of members. Two sibs suffered from unusually severe, identical, and fatal manifestations from birth, their parents having mild cardiovascular and somatic symptoms common i...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Pediatric Research

سال: 1984

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-198404001-01268