A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises-Reference-Cited by-同舟云学术

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A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

Published:2004 Issue:3 Volume:129A Page:312-315
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Spruijt L.,Engelen J.J.M.,Bruinen-Smeijsters I.P.,Albrechts J.C.M.,Schrander J.,Schrander-Stumpel C.T.R.M.

Publisher

Wiley

Subject

Genetics (clinical)

Reference12 articles.

1. del(15)(q22q24) Syndrome with Potter sequence

2. High resolution R- and G-banding on the same preparation

3. A simple and efficient method for microdissection and microFISH.

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1. SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome;Neuroendocrinology;2023

2. De novointerstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case;Korean Journal of Pediatrics;2015

3. Cytogenetic Studies of Idiopathic Mental Retardation: A Report;International Journal of Human Genetics;2010-03

4. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping;Human Genetics;2009-06-26

5. Is gene discovery research or diagnosis?;Genetics in Medicine;2008-06

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