Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome

Maria Haanpää; Helena Schlecht; Gauri Batra; Jill Clayton-Smith; Sofia Douzgou

doi:10.1002/ajmg.a.38131

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.38131 ◽

2017 ◽

Vol 173 (4) ◽

pp. 1115-1118 ◽

Cited By ~ 1

Author(s):

Maria Haanpää ◽

Helena Schlecht ◽

Gauri Batra ◽

Jill Clayton-Smith ◽

Sofia Douzgou

Keyword(s):

Kabuki Syndrome ◽

Diagnostic Clue

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First rank symptoms as a diagnostic clue to MPD

PsycEXTRA Dataset ◽

10.1037/e609912012-009 ◽

1985 ◽

Author(s):

Richard P. Kluft

Keyword(s):

Diagnostic Clue ◽

First Rank Symptoms

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Kabuki syndrome – an anesthetic chalenge

10.26226/morressier.58f5b032d462b80296c9d916 ◽

2017 ◽

Author(s):

Carolina Oliveira

Keyword(s):

Kabuki Syndrome

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Faculty Opinions recommendation of Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.5236960.9949054 ◽

2011 ◽

Author(s):

Gary Bader ◽

Ron Ammar

Keyword(s):

Exome Sequencing ◽

Kabuki Syndrome

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Dohsa‐hou intervention for reciprocal interpersonal interaction for a girl with Kabuki syndrome and autism spectrum disorder

Clinical Case Reports ◽

10.1002/ccr3.4296 ◽

2021 ◽

Vol 9 (6) ◽

Author(s):

Juri Kawano ◽

Haruo Fujino

Keyword(s):

Autism Spectrum Disorder ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Interpersonal Interaction ◽

Kabuki Syndrome

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Keratic Precipitates: The Underutilized Diagnostic Clue

Ocular Immunology and Inflammation ◽

10.1080/09273948.2020.1836236 ◽

2021 ◽

pp. 1-10

Author(s):

Nicole Shu-Wen Chan ◽

Soon-Phaik Chee

Keyword(s):

Keratic Precipitates ◽

Diagnostic Clue

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Generalised eczema: a diagnostic clue to Wiskott-Aldrich syndrome

BMJ Case Reports ◽

10.1136/bcr-2021-242642 ◽

2021 ◽

Vol 14 (6) ◽

pp. e242642

Author(s):

Akash Kumar ◽

Saurav Jain ◽

Prawin Kumar ◽

Jagdish Prasad Goyal

Keyword(s):

Wiskott Aldrich Syndrome ◽

Diagnostic Clue

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Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01892-4 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Young-In Chi ◽

Timothy J. Stodola ◽

Thiago M. De Assuncao ◽

Elise N. Levrence ◽

Swarnendu Tripathi ◽

...

Keyword(s):

Molecular Mechanics ◽

Kabuki Syndrome ◽

Dynamic Simulations

An amendment to this paper has been published and can be accessed via the original article.

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Thick corpus callosum: An underrecognised but important diagnostic clue

Tropical Doctor ◽

10.1177/00494755211026281 ◽

2021 ◽

pp. 004947552110262

Author(s):

Suchit S Jogu ◽

Bhanudeep Singanamalla ◽

Priyanka Madaan ◽

Chirag K Ahuja ◽

Lokesh Saini

Keyword(s):

Corpus Callosum ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

First Episode ◽

Common Disorder ◽

Diagnostic Clue ◽

Signal Intensities

Neurofibromatoses are inherited tumour-suppressive disorders that are characterised by multiple neoplastic and non-neoplastic tumours. Neurofibromatosis type 1 is a common disorder with multiple neurofibromas with widespread complications. We here report a seven-year old boy presenting with first episode of seizure and multiple café-au-lait macules but neuroimaging revealed corpus callosal changes without any focal areas of signal intensities.

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