Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment

scientific article published on 28 May 2015

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.1055/S-0035-1547529
P932PMC publication ID4487125
P698PubMed publication ID26171318
P5875ResearchGate publication ID277979862

P2093author name stringRichard Turnock
Sotirios Siminas
Colin Tennant Baillie
P2860cites workExome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeQ24622470
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndromeQ28256091
Unmasking Kabuki syndromeQ34310239
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patientsQ34685121
Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combinationQ38855279
Phenotypic spectrum and management issues in Kabuki syndrome.Q51985916
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese casesQ52044731
Anorectal anomalies associated with Kabuki make-up syndromeQ67970838
Congenital funnel anus in children: associated anomalies, surgical management and outcomeQ81422347
P433issue1
P921main subjectKabuki syndromeQ1538227
P304page(s)54-58
P577publication date2015-05-28
P1433published inEuropean journal of pediatric surgery reportsQ27725326
P1476titleKabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment
P478volume3

Reverse relations

Q90512980Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanismscites workP2860

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