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Quoted phrase not found in phrase index: "Intellectual developmental disorder with dysmorphic facies and ptosis"
Page 1
Fragile X syndrome.
Laxova R. Laxova R. Adv Pediatr. 1994;41:305-42. Adv Pediatr. 1994. PMID: 7992687 Review.
It is inherited in an atypical X-linked dominant way and affects about 1 in 1000 males and 1 in 2000 females; about 1 in 700 females is a carrier. 3. A characteristic but subtle phenotype includes an elongated face and mandible, large ears, macrocephaly with bizygomatic pi …
It is inherited in an atypical X-linked dominant way and affects about 1 in 1000 males and 1 in 2000 females; about 1 in 700 females is a ca …
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study. Schuurs-Hoeijmakers JH, et al. Am J Med Genet A. 2016 Mar;170(3):670-5. doi: 10.1002/ajmg.a.37476. Epub 2016 Feb 3. Am J Med Genet A. 2016. PMID: 26842493
We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable intellectual disability syndrome. There is a distinctive facial appearance (19/19), characterized by full and arched eyebrows, hyp …
We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable i …
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.
Jinxiu L, Shuimei L, Ming X, Jonathan LC, Xiangju L, Wenyuan D. Jinxiu L, et al. Medicine (Baltimore). 2020 Apr;99(16):e19813. doi: 10.1097/MD.0000000000019813. Medicine (Baltimore). 2020. PMID: 32311999 Free PMC article.
RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdia …
RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder chara …