Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 [del(4)(p16.3)]....
10 KB (937 words) - 10:37, 15 July 2024
deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome. The chromosomal...
9 KB (1,128 words) - 00:28, 24 May 2023
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
151 KB (15,111 words) - 20:33, 12 July 2024
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing...
77 KB (9,046 words) - 03:09, 16 July 2024
hedgehog syndrome Wolcott–Rallison syndrome Wolff–Parkinson–White syndrome Wolfram syndrome Wolf–Hirschhorn syndrome Woodhouse–Sakati syndrome Work-related...
41 KB (4,052 words) - 14:58, 17 June 2024
Usher syndrome Waardenburg syndrome Werner syndrome Wolf–Hirschhorn syndrome Wolff–Parkinson–White syndrome ICD-10 Chapter Q: Congenital malformations...
4 KB (355 words) - 01:24, 22 July 2023
Deletion of LETM1 is thought to be involved in the development of Wolf–Hirschhorn syndrome in humans. LETM1-like protein family GRCh38: Ensembl release 89:...
9 KB (1,177 words) - 03:43, 28 October 2022
expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal...
7 KB (988 words) - 09:50, 18 August 2023
Deletion of LETM1 is thought to be involved in the development of Wolf-Hirschhorn syndrome in humans. A member of this family, SWISSPROT, is known to be expressed...
2 KB (217 words) - 11:21, 22 March 2023
Wolff–Parkinson–White syndrome Wolf–Hirschhorn syndrome Wolfram syndrome Wolman disease Woodhouse–Sakati syndrome Woods–Black–Norbury syndrome Woods–Leversha–Rogers...
5 KB (439 words) - 17:45, 14 March 2022