PMC Articles for MedGen (Select 1808766) - PMC - NCBI

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Select item 76780481.

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

Anna Zlotina, Olesia Melnik, Yulia Fomicheva, Rostislav Skitchenko, Alexey Sergushichev, Elena Shagimardanova, Oleg Gusev, Guzel Gazizova, Tatiana Loevets, Tatiana Vershinina, Ivan Kozyrev, Mikhail Gordeev, Elena Vasichkina, Tatiana Pervunina, Anna Kostareva

BMC Med Genomics. 2020; 13: 175. Published online 2020 Nov 20. doi: 10.1186/s12920-020-00821-x

PMCID:: PMC7678048

Abstract Article PDF–1.3M

Select item 54962292.

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree

Xingyan Yang, Quankuan Shen, Xierzhatijiang Sulaiman, Hequn Liu, Minsheng Peng, Yaping Zhang

Hereditas. 2018; 155: 2. Published online 2017 Jul 3. doi: 10.1186/s41065-017-0040-6

PMCID:: PMC5496229

Abstract Article PDF–524K

Select item 53648263.

Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease

Zhenghua Liu, Ni Yin, Lianghui Gong, Zhiping Tan, Bangliang Yin, Yifeng Yang, Cheng Luo

Mol Med Rep. 2017 Feb; 15(2): 793–797. Published online 2016 Dec 29. doi: 10.3892/mmr.2016.6092

PMCID:: PMC5364826

Abstract Article PDF–1.2M

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PMC Articles for MedGen (Select 1808766) (3)
PMC
translocating chain-associated membrane protein 2 [Rattus norvegicus]
translocating chain-associated membrane protein 2 [Rattus norvegicus]
gi|2174212869|ref|NP_001386341.1|

Protein
Serine incorporator 3 [Rattus norvegicus]
Serine incorporator 3 [Rattus norvegicus]
gi|55250151|gb|AAH85853.1|

Protein
PREDICTED: Rattus norvegicus uncharacterized LOC134482872 (LOC134482872), transc...
PREDICTED: Rattus norvegicus uncharacterized LOC134482872 (LOC134482872), transcript variant X1, ncRNA
gi|2678909506|ref|XR_010059501.1|

Nucleotide
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

MedGen

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