All individuals with variants in gene TRIM37

7 entries on 1 page. Showing entries 1 - 7.
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00302568 Fam1Pat1 Journal: Jobic 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France - - - - - ? see paper; ... 2 1 Kaisa Kettunen
00302569 Fam2Pat1 Journal: Jobic 2017 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M no France - - - - - ? see paper; ... 2 2 Kaisa Kettunen
00302570 Fam2Pat2 Journal: Jobic 2017 - F no France - - - - - ? see paper; ... 2 1 Kaisa Kettunen
00302575 patient PubMed: Kallijärvi 2005 - - - Finland - - - - - Mulibrey nanism see paper; ... 2 1 Kaisa Kettunen
00302576 patient PubMed: Mozzillo 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - - - - ? see paper; ..., intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, bilateral fifth finger clinodactyly, left atrial and ventricular enlargement, patent foramen ovale: X-ray hypoplasia twelfth rib bilaterally and coccyx, slender long bones with thick cortex, narrow medullary channels 2 1 Kaisa Kettunen
00302577 patient PubMed: Meyer 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00440438 PED2700.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
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