Noonan Syndrome—Certitude Replaces Conjecture
نویسندگان
چکیده
منابع مشابه
Noonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
متن کاملUnified Theory Replaces Relativity
A wave exists only in its propagating medium but Einstein erred to discard the medium for light wave and to introduce the non-existent 4-D spacetime continuum instead. It denied him the chance to address the intrinsic wave-quantum Unity of light and predict the new entity of ‘basic substance’ to compose all forms of E & m so compellingly demanded for the inter-conversions of E & m by the eqn. E...
متن کاملCompact City Replaces Sprawl
The compact, geometrically integrated city can and should replace suburban sprawl as the dominant development pattern in the future. This approach to urban planning and design is well established among proponents of the New Urbanist and Smart Growth movements. However, the more radical scenario I propose in this paper is that the compact city should also replace the high-rise, ultra-high-densit...
متن کاملNoonan syndrome
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associa...
متن کاملNoonan syndrome.
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deform...
متن کاملذخیره 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: The Journal of Clinical Endocrinology & Metabolism
سال: 2002
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.87.8.9998