Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction

scientific article published on 11 September 2019

Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.5223/PGHN.2019.22.5.487
P932PMC publication ID6751108
P698PubMed publication ID31555574

P50authorJuan SolaQ69647884
Anthony R HoganQ90292588
Krishnamurti A RaoQ90292592
Willa L ThorsonQ90292595
Holly L NevilleQ90292598
Eduardo A PerezQ90292601
P2860cites workA new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafnessQ24676644
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanismQ28218691
Persistent gastrointestinal symptoms after correction of malrotationQ35627313
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4Q36512067
Diagnosis of Chronic Intestinal Pseudo-obstruction & Megacystis by Sequencing the ACTG2 GeneQ38830477
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndromeQ39478251
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysisQ50180513
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathyQ55671550
Megacystis, megacolon, and malrotation: A new syndromic association?Q60035810
Chronic intestinal pseudo-obstruction with meconium ileus at onsetQ72577758
Acquired ileal atresia and spontaneous reconstitution of intestinal continuity in a premature infant with necrotizing enterocolitisQ73569400
Entero-enteric fistula following mild necrotizing enterocolitisQ81721664
P275copyright licenseCreative Commons Attribution-NonCommercial 4.0 InternationalQ34179348
P6216copyright statuscopyrightedQ50423863
P433issue5
P921main subjectintestinal pseudo-obstructionQ3924862
P304page(s)487-492
P577publication date2019-09-11
P1433published inPediatric gastroenterology, hepatology & nutritionQ26842536
P1476titleWaardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction
P478volume22

Reverse relations

Q90304572Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndromecites workP2860

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