Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

scientific article

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.3345/KJP.2016.59.11.S25
P932PMC publication ID5177705
P698PubMed publication ID28018439

P2093author name stringJin-Ho Choi
Eul-Ju Seo
Jun Suk Kim
Beom Hee Lee
Gu-Hwan Kim
Han-Wook Yoo
Ja Hyang Cho
Ja Hye Kim
In-Hee Choi
Yoon-Myung Kim
P2860cites workDeletion 22q13.3 syndromeQ21202915
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Q24612792
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsQ24676539
Growth in Phelan-McDermid syndromeQ28245349
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersQ28273097
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndromeQ28306951
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disordersQ36927121
The emerging role of SHANK genes in neuropsychiatric disordersQ38152438
P275copyright licenseCreative Commons Attribution-NonCommercial 4.0 InternationalQ34179348
P6216copyright statuscopyrightedQ50423863
P433issueSuppl 1
P304page(s)S25-S28
P577publication date2016-11-30
P1433published inKorean journal of pediatricsQ26853872
P1476titlePhelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
P478volume59

Reverse relations

Q90712113The copy number variation landscape of congenital anomalies of the kidney and urinary tractcites workP2860

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