Results 71 to 80 of about 2,491 (128)

Case Report: A <i>FBN1</i> frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome. [PDF]

Front Cardiovasc Med
Su C, Zeng L, Lu H, Wang Z, Wei M.
europepmc   +1 more source

First-Trimester Aortic Root Replacement in a Pregnant Woman with Previously Undiagnosed Marfan Syndrome. [PDF]

Eur J Case Rep Intern Med
Abbay A, Ibrayev T, Mukarov M, Talkhatova S, Murzagaliyev M.   +4 more
europepmc   +1 more source

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly. [PDF]

Hum Genome Var
Nakama M, Miwa Y, Manabe S, Shimamoto S, Ohnishi H.   +4 more
europepmc   +1 more source

Isolated aortic root dilatation - Expanding the cardiac phenotype of 22q11 deletion syndrome. [PDF]

Ann Pediatr Cardiol
Krishna MR, Sennaiyan UN.
europepmc   +1 more source

[ARACHNODACTYLY].

Pediatria polska, 1996
openaire   +1 more source

Novel Homozygous MTHFR Variant Causing Homocystinuria: Subtle Phenotypic Clues in Carriers. [PDF]

AACE Endocrinol Diabetes
Pande AKR, Jha A, Thakur AK, Talat Z.
europepmc   +1 more source

Congenital contractural arachnodactyly.

Indian pediatrics, 1996
M L, Kulkarni, C S, Kumar, V, Venkataramana, V G, George, M, Bhagyavathi   +4 more
openaire   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Arachnodactyly represented in art

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2021
AbstractArachnodactyly, a term used since 1902 to describe abnormally long (spider‐like) fingers, is a pathologic feature of several heritable conditions, notably the Marfan syndrome and congenital contractural arachnodactyly. A number of prominent artists, dating from the 16th to the 20th centuries, have depicted subjects with unusually long fingers ...
Reed Pyeritz
exaly   +3 more sources