Results 1 -
10
of
52
for
Brown syndrome
- ... history of the disorder in their family. Tatton-Brown-Rahman syndrome TBRS Genetic Testing Registry: Tatton-Brown-Rahman overgrowth syndrome National Organization for Rare Disorders (NORD) TATTON-BROWN-RAHMAN SYNDROME; TBRS PubMed Lemire G, Gauthier J, Soucy JF, ...
- ... two conditions that were once considered distinct disorders: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease. The two conditions ... not show signs and symptoms of the condition. Brown-Vialetto-Van Laere syndrome BVVLS Fazio-Londe disease Fazio-Londe syndrome Pontobulbar ...
- ... Epub 2015 Sep 29. Citation on PubMed Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. 2004 Dec 17 [updated 2022 Dec 1]. In: ... PubMed or Free article on PubMed Central Tatton-Brown K, Rahman N. Clinical features of NSD1-positive Sotos syndrome. Clin Dysmorphol. 2004 Oct;13(4):199-204. ...
- ... 10.2741/216. Citation on PubMed Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [updated 2023 Oct 19]. In: ...
- ... stature in affected individuals.Some individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a ...
- ... PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, Newbury-Ecob RA. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002 ...
- ... abnormalities of skin coloring (pigmentation), such as light brown patches called café-au-lait spots.Coats plus syndrome and a disorder called leukoencephalopathy with calcifications and ...
- ... KP, Wider C, Vilarino-Guell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. DCTN1 mutations in Perry syndrome. Nat Genet. 2009 Feb;41(2):163-5. ...
- ... later in life. The characteristic features of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to ...
- ... or Free article on PubMed Central Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in ...