Ambras Syndrome
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1072-1
Reference9 articles.
1. Balducci R, Toscano V, Tedeschi B, Mangiantini A, Toscano R, Galasso C, Cianfarani S, Boscherini B (1998) A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22). Clin Genet 53(6):466–468
2. Baumeister FA, Egger J, Schildhauer MT, Stengel-Rutkowski S (1993) Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22). Clin Genet 44(3):121–128
3. Bubna AK, Veeraraghavan M, Anandan S, Rangarajan S (2015) Congenital generalized hypertrichosis, gingival hyperplasia, a coarse facies with constriction bands: a rare association. Int J Trichology 7(2):67
4. Chen W, Ring J, Happle R (2015) Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term “Ambras syndrome”. Eur J Dermatol 25(3):223–227
5. Fantauzzo KA, Tadin-Strapps M, You Y, Mentzer SE, Baumeister FA, Cianfarani S, Van Maldergem L, Warburton D, Sundberg JP, Christiano AM (2008) A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet 17(22):3539–3551
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