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Article

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2016

Shaheen Ranad, Patel Nisha, Shamseldin Hanan, Alzahrani Fatema, Al-Yamany Ruah, ALMoisheer Agaadir, Ewida Nour, Anazi Shamsa, Alnemer Maha, Elsheikh Mohamed, Alfaleh Khaled, Alshammari Muneera, Alhashem Amal, Alangari Abdullah A, Salih Mustafa A, Kircher Martin, Daza Riza M, Ibrahim Niema, Wakil Salma M, Alaqeel Ahmed, Altowaijri Ikhlas, Shendure Jay, Al-Habib Amro, Faqieh Eissa, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: Dysmorphology syndromes are among the most common referrals to clinical genetics specialists. Inability to match the dysmorphology pattern to a known syndrome can pose a major diagnostic challenge. With an aim to accelerate the establishment of new syndromes and their genetic etiology, we describe our experience with multiplex consanguineous families that appeared to represent novel autosomal recessive...

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Source

Identifiers

PMID: 26633546
DOI: 10.1038/gim.2015.147

Genes

CADPS
CDK9
CTU2
HYAL2
MBL2
NEK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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