case report | Q2782326 |
scholarly article | Q13442814 |
P50 | author | Juan Sola | Q69647884 |
Anthony R Hogan | Q90292588 | ||
Krishnamurti A Rao | Q90292592 | ||
Willa L Thorson | Q90292595 | ||
Holly L Neville | Q90292598 | ||
Eduardo A Perez | Q90292601 | ||
P2860 | cites work | A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness | Q24676644 |
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism | Q28218691 | ||
Persistent gastrointestinal symptoms after correction of malrotation | Q35627313 | ||
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4 | Q36512067 | ||
Diagnosis of Chronic Intestinal Pseudo-obstruction & Megacystis by Sequencing the ACTG2 Gene | Q38830477 | ||
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome | Q39478251 | ||
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis | Q50180513 | ||
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy | Q55671550 | ||
Megacystis, megacolon, and malrotation: A new syndromic association? | Q60035810 | ||
Chronic intestinal pseudo-obstruction with meconium ileus at onset | Q72577758 | ||
Acquired ileal atresia and spontaneous reconstitution of intestinal continuity in a premature infant with necrotizing enterocolitis | Q73569400 | ||
Entero-enteric fistula following mild necrotizing enterocolitis | Q81721664 | ||
P275 | copyright license | Creative Commons Attribution-NonCommercial 4.0 International | Q34179348 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 5 | |
P921 | main subject | intestinal pseudo-obstruction | Q3924862 |
P304 | page(s) | 487-492 | |
P577 | publication date | 2019-09-11 | |
P1433 | published in | Pediatric gastroenterology, hepatology & nutrition | Q26842536 |
P1476 | title | Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction | |
P478 | volume | 22 |
Q90304572 | Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome | cites work | P2860 |
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