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The Journal of Clinical Endocrinology and Metabolism|June 6, 2003
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutationGuntram Borck, Christian Roth, Ursula Martiné, et al.
The Journal of Clinical Endocrinology and Metabolism|March 26, 2009
Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sisterGuntram Borck, Ora Seewi, Alexander Jung, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutationGuntram Borck, Peter Beighton, Christian Wilhelm, et al.
Molecular and Cellular Probes|July 18, 2015
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndromeAlma Kuechler, Janine Altmüller, Peter Nürnberg, et al.
Annals of Human Genetics|February 13, 2018
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndromeFarooq Ahmad, Abdul Nasir, Holger Thiele, et al.
Human Mutation|January 16, 2007
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutationsGuntram Borck, Mohamed Zarhrate, Jean-Paul Bonnefont, et al.
American Journal of Medical Genetics. Part A|February 26, 2013
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndromeKatalin Szakszon, Carmelo Salpietro, Naseebullah Kakar, et al.
The Journal of Clinical Endocrinology and Metabolism|November 9, 2004
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 geneUlrike Napiontek, Guntram Borck, Wiebke Müller-Forell, et al.
American Journal of Medical Genetics. Part A|December 23, 2017
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophiesNaseebullah Kakar, Denise Horn, Eva Decker, et al.
European Journal of Medical Genetics|April 1, 2009
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian familyAbdelkrim Saadi, Guntram Borck, Nathalie Boddaert, et al.
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