@article {757,
	title = {Gomez-L{\'o}pez-Hern{\'a}ndez syndrome: A case report with clinical and molecular evaluation and literature review.},
	journal = {Am J Med Genet A},
	volume = {182},
	year = {2020},
	month = {2020 07},
	pages = {1761-1766},
	abstract = {<p>Gomez-L{\'o}pez-Hern{\'a}ndez syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described. Despite its first description in 1979, the etiology of this syndrome remains unknown. Here, we describe, to our knowledge, the first case of a patient with GLHS who was molecularly evaluated and had been prenatally exposed to misoprostol. We also reviewed the clinical and morphological features of the patients described to date to better delineate the phenotype and focus on any evidence for adverse pregnancy outcomes or exposure, including teratogens.</p>},
	keywords = {Abnormalities, Multiple, Alopecia, Cerebellum, Child, Child, Preschool, Craniofacial Abnormalities, Female, Growth Disorders, Humans, Magnetic Resonance Imaging, Misoprostol, Neurocutaneous Syndromes, Phenotype, Rhombencephalon, Trigeminal Nerve},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.61594},
	author = {Perrone, Eduardo and D{\textquoteright}Almeida, V{\^a}nia and de Macena Sobreira, Nara Lygia and de Mello, Claudia Berlim and de Oliveira, Allan Chiaratti and Burlin, St{\^e}nio and Soares, Maria de F{\'a}tima de Faria and Cernach, Mirlene Cec{\'\i}lia Soares Pinho and Alvarez Perez, Ana Beatriz}
}
@article {74,
	title = {Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.},
	journal = {Am J Hum Genet},
	volume = {98},
	year = {2016},
	month = {2016 Mar 03},
	pages = {579-587},
	abstract = {<p>Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectual disability can be present, although affected individuals without seizures and with normal intellect have also been reported. Given the patchy and asymmetric nature of the malformations, ECCL has been hypothesized to be due to a post-zygotic, mosaic mutation. Despite phenotypic overlap with several other disorders associated with mutations in the RAS-MAPK and PI3K-AKT pathways, the molecular etiology of ECCL remains unknown. Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each. These two residues are the most commonly mutated residues in FGFR1 in human cancers and are associated primarily with CNS tumors. Targeted resequencing of FGFR1 in multiple tissues from an independent cohort of individuals with ECCL identified one additional individual with a c.1638C>A (p.Asn546Lys) mutation in FGFR1. Functional studies of ECCL fibroblast cell lines show increased levels of phosphorylated FGFRs and phosphorylated FRS2, a direct substrate of FGFR1, as well as constitutive activation of RAS-MAPK signaling. In addition to identifying the molecular etiology of ECCL, our results support the emerging overlap between mosaic developmental disorders and tumorigenesis.</p>},
	keywords = {Adolescent, Cell Line, Tumor, Central Nervous System Neoplasms, Child, Preschool, Exome, Eye, Eye Diseases, Female, Humans, Infant, Lipomatosis, Male, Mutation, Mutation, Missense, Neurocutaneous Syndromes, Phosphatidylinositol 3-Kinases, Proto-Oncogene Proteins c-akt, Receptor, Fibroblast Growth Factor, Type 1, Seizures, Sequence Analysis, DNA},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2016.02.006},
	author = {Bennett, James T and Tan, Tiong Yang and Alcantara, Diana and T{\'e}trault, Martine and Timms, Andrew E and Jensen, Dana and Collins, Sarah and Nowaczyk, Malgorzata J M and Lindhurst, Marjorie J and Christensen, Katherine M and Braddock, Stephen R and Brandling-Bennett, Heather and Hennekam, Raoul C M and Chung, Brian and Lehman, Anna and Su, John and Ng, SuYuen and Amor, David J and Majewski, Jacek and Biesecker, Les G and Boycott, Kym M and Dobyns, William B and O{\textquoteright}Driscoll, Mark and Moog, Ute and McDonell, Laura M}
}
@article {163,
	title = {New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.},
	journal = {J Dermatol},
	volume = {42},
	year = {2015},
	month = {2015 Aug},
	pages = {821-2},
	keywords = {Arabs, Female, Founder Effect, Humans, Infant, Newborn, Keratoderma, Palmoplantar, Neurocutaneous Syndromes, Qb-SNARE Proteins, Qc-SNARE Proteins},
	issn = {1346-8138},
	doi = {10.1111/1346-8138.12917},
	author = {Ben-Salem, Salma and Nara, Sobreira and Al-Shamsi, Aisha M and Valle, David and Ali, Bassam R and Al-Gazali, Lihadh}
}
